| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Achievement of Therapeutic Goals Over 2 Years of Velaglucerase Alfa Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease
|
Elstein, Deborah
|
|
2012
|
105 |
2 |
p. S28-
1 p.
|
artikel
|
| 2 |
A Continuum of Histopathologic Disease is Present in Adults with Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)
|
Thurberg, Beth
|
|
2012
|
105 |
2 |
p. S60-
1 p.
|
artikel
|
| 3 |
Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated
|
Jangouk, Parastoo
|
|
2012
|
105 |
2 |
p. 180-185
6 p.
|
artikel
|
| 4 |
Agalsidase Beta Treatment Improves Left Ventricular Hypertrophy When Treatment is Initiated Early: Data from The Fabry Registry
|
Germain, Dominique
|
|
2012
|
105 |
2 |
p. S30-
1 p.
|
artikel
|
| 5 |
A Germline Mutation in Two Families with Gaucher Disease
|
Tayebi, Nahid
|
|
2012
|
105 |
2 |
p. S60-
1 p.
|
artikel
|
| 6 |
β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease
|
Koeberl, Dwight D.
|
|
2012
|
105 |
2 |
p. 221-227
7 p.
|
artikel
|
| 7 |
A Historical Chart Review and Longitudinal Follow-Up of Identified Patients with Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency
|
Grabowski, Gregory A.
|
|
2012
|
105 |
2 |
p. S32-
1 p.
|
artikel
|
| 8 |
A Homozygous R152W Mutation is Associated with a Relatively Attenuated Phenotype of Mucopolysaccharidosis Type VI
|
Jurecka, Agnieszka
|
|
2012
|
105 |
2 |
p. S38-
1 p.
|
artikel
|
| 9 |
AIM, a Multi-Targeted, Combination Oral Therapy for the Gangliosidoses
|
Utz, J.R.
|
|
2012
|
105 |
2 |
p. S61-
1 p.
|
artikel
|
| 10 |
A Mechanistic Connection Between Gaucher Disease and the Synucleinopathies
|
Mazzulli, Joseph
|
|
2012
|
105 |
2 |
p. S46-
1 p.
|
artikel
|
| 11 |
Amelioration of Short Stature in Patients with Hunter Syndrome Receiving Idursulfase: Data from the Hunter Outcome Survey (HOS)
|
Jones, Simon
|
|
2012
|
105 |
2 |
p. S38-
1 p.
|
artikel
|
| 12 |
A Metabolomic Study Leads to Detection of Novel Fabry Disease Biomarkers
|
Auray-Blais, Christiane
|
|
2012
|
105 |
2 |
p. S19-
1 p.
|
artikel
|
| 13 |
A 4 Month Old With Hurler Syndrome and Mosaic Fragile X Syndrome: To Transplant Or Not To Transplant?
|
Berry, Lisa
|
|
2012
|
105 |
2 |
p. S20-S21
2 p.
|
artikel
|
| 14 |
A Natural History of Hexosaminidase Deficiency
|
Okita, Brenda M. Diethelm-
|
|
2012
|
105 |
2 |
p. S61-S62
2 p.
|
artikel
|
| 15 |
A New Method for the Measurement of Lysosomal Acid Lipase in Dried Blood Spots using the Inhibitor Lalistat 2
|
Hamilton, John
|
|
2012
|
105 |
2 |
p. S32-S33
2 p.
|
artikel
|
| 16 |
A Novel Use for Acid Ceramidase in Cell-Based Therapies For Degenerative Joint Diseases, Including the Mucopolysaccharidoses
|
Schuchman, Edward
|
|
2012
|
105 |
2 |
p. S56-
1 p.
|
artikel
|
| 17 |
Aortic stenosis and vascular calcifications in alkaptonuria
|
Hannoush, Hwaida
|
|
2012
|
105 |
2 |
p. 198-202
5 p.
|
artikel
|
| 18 |
A Pilot Newborn Screening Program for Lysosomal Storage Disorders (LSD) in Illinois
|
Burton, Barbara
|
|
2012
|
105 |
2 |
p. S23-S24
2 p.
|
artikel
|
| 19 |
A Pilot Program Screening for Fabry, Pompe, and MPS I in a Newborn Screening Laboratory: The First 60,000 Samples
|
Scott, C. Ronald
|
|
2012
|
105 |
2 |
p. S56-S57
2 p.
|
artikel
|
| 20 |
Assessing the Reliability, Validity, and Responsiveness to Change of the Hunter Syndrome – Functional Outcomes for Clinical Understanding Scale (HS-FOCUS)
|
Wiklund, Ingela
|
|
2012
|
105 |
2 |
p. S65-S66
2 p.
|
artikel
|
| 21 |
Assessment of Disease Severity in Late Infantile Neuronal Ceroid Lipofuscinosis Using Whole Brain Multiparametric Magnetic Resonance Imaging
|
Dyke, Jonathan
|
|
2012
|
105 |
2 |
p. S27-S28
2 p.
|
artikel
|
| 22 |
A System Biology View of the Glycosaminoglycans Degradation Pathways
|
Almeciga-Diaz, Carlos
|
|
2012
|
105 |
2 |
p. S17-
1 p.
|
artikel
|
| 23 |
Beta2 Agonists Enhance Efficacy of Enzyme Replacement Therapy in Murine Pompe Disease
|
Koeberl, Dwight
|
|
2012
|
105 |
2 |
p. S42-
1 p.
|
artikel
|
| 24 |
BMN 110 (Recombinant Human GALNS), an Investigational Enzyme Replacement Therapy for Mucopolysaccharidosis Type IVA (MPS IVA Or Morquio Syndrome), Promotes Type II Collagen Synthesis in MPS IVA Patients
|
Lorget, Florence
|
|
2012
|
105 |
2 |
p. S44-
1 p.
|
artikel
|
| 25 |
Booster-Effect with Velaglucerase Alfa in Patients with Gaucher Disease Switched from Long-Term Imiglucerase Therapy: Early Access Program Results from Jerusalem
|
Elstein, Deborah
|
|
2012
|
105 |
2 |
p. S28-S29
2 p.
|
artikel
|
| 26 |
Brain Function in Children with Fabry Disease
|
Ziegler, Richard
|
|
2012
|
105 |
2 |
p. S68-
1 p.
|
artikel
|
| 27 |
Brain Structure and Function in MPS II
|
Yund, Brianna
|
|
2012
|
105 |
2 |
p. S67-
1 p.
|
artikel
|
| 28 |
Brain Volumes and Cognitive Function in MPS IIIA (Sanfilippo Syndrome Type A): Cross-sectional Study
|
Nestrasil, Igor
|
|
2012
|
105 |
2 |
p. S48-S49
2 p.
|
artikel
|
| 29 |
Brain Volumes in Neuronal Ceroid Lipofuscinoses: Cross-sectional Study
|
Nestrasil, Igor
|
|
2012
|
105 |
2 |
p. S49-
1 p.
|
artikel
|
| 30 |
Buccal Swab Specimens for IDUA Genotype Analysis for Patients after Hematopoietic Stem Cell Transplantation
|
Cooksley, Renee D.
|
|
2012
|
105 |
2 |
p. S25-
1 p.
|
artikel
|
| 31 |
Cardiac Features and Severity of Fabry Disease Improve with Enzyme Replacement Therapy
|
Motwani, Manish
|
|
2012
|
105 |
2 |
p. S47-
1 p.
|
artikel
|
| 32 |
Cardiac Ultrasound Findings in Sanfilippo Syndrome Type A
|
Hays, Brandon
|
|
2012
|
105 |
2 |
p. S34-
1 p.
|
artikel
|
| 33 |
Cardiovascular Manifestations of Mucopolysaccharidosis Type VI
|
Jurecka, Agnieszka
|
|
2012
|
105 |
2 |
p. S38-
1 p.
|
artikel
|
| 34 |
Causes of Death (COD) in 184 Patients With Type 1 Gaucher Disease (GD1) from the United States Who Were Never Treated With Enzyme Replacement Therapy (ERT)
|
Weinreb, Neal
|
|
2012
|
105 |
2 |
p. S64-
1 p.
|
artikel
|
| 35 |
CD77 as a Biomarker for Effectiveness of Enzymatic Replacement Therapy in Fabry Disease
|
Pereira, Ester Miranda
|
|
2012
|
105 |
2 |
p. S46-
1 p.
|
artikel
|
| 36 |
Cell-Based Evaluation of Small Molecules for Treatment of Pompe Disease
|
Westbroek, Wendy
|
|
2012
|
105 |
2 |
p. S65-
1 p.
|
artikel
|
| 37 |
CFTR mutation analysis and haplotype associations in CF patients
|
Cordovado, S.K.
|
|
2012
|
105 |
2 |
p. 249-254
6 p.
|
artikel
|
| 38 |
Challenges in Cognitive Assessment of Children with MPS IIIA
|
Delaney, Kathleen
|
|
2012
|
105 |
2 |
p. S27-
1 p.
|
artikel
|
| 39 |
Characteristics Associated with Delays in Diagnosis of Pompe Disease Among Patients Enrolled in the Pompe Registry
|
Kishnani, Priya
|
|
2012
|
105 |
2 |
p. S41-
1 p.
|
artikel
|
| 40 |
Chitotriosidase as a Measure of Disease Burden in Patients with GM1 and GM2 Gangliosidosis
|
Beattie, Lindsay
|
|
2012
|
105 |
2 |
p. S20-
1 p.
|
artikel
|
| 41 |
Clinical Development of Products to Treat Rare Diseases
|
Pariser, Ann
|
|
2012
|
105 |
2 |
p. S50-
1 p.
|
artikel
|
| 42 |
Cloramphenicol: A pharmacological chaperone?
|
Giugliani, Roberto
|
|
2012
|
105 |
2 |
p. S30-S31
2 p.
|
artikel
|
| 43 |
CNS Neuropathology in a Mouse Model of Fabry Disease Indicates Alterations in the Autophagy-Lysosome Pathway
|
Shacka, John
|
|
2012
|
105 |
2 |
p. S57-
1 p.
|
artikel
|
| 44 |
Combination of Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation among MPS I Patients: An MPS I Registry Analysis
|
D'Aco, Kristin
|
|
2012
|
105 |
2 |
p. S26-
1 p.
|
artikel
|
| 45 |
Cost-effectiveness of Enzyme Replacement Therapy for Fabry Disease
|
Rombach, Saskia
|
|
2012
|
105 |
2 |
p. S55-
1 p.
|
artikel
|
| 46 |
Delayed Diagnosis of Gaucher Disease Type 2 in a Child of Columbian Descent with a Retroocular Hemangioma
|
Hewson, Stacy
|
|
2012
|
105 |
2 |
p. S35-
1 p.
|
artikel
|
| 47 |
Depression in Patients with Fabry Disease: The Benefits of Telephone-Administered Versus Face-to-Face Psychological Counseling
|
Ali, Nadia
|
|
2012
|
105 |
2 |
p. S16-
1 p.
|
artikel
|
| 48 |
Developing Brain Imaging Markers of Treatment Response and Progression in Mucopolysaccharidosis Type II
|
Prada, Carlos
|
|
2012
|
105 |
2 |
p. S53-S54
2 p.
|
artikel
|
| 49 |
Development of a Disease Model for Late-Infantile Neuronal Ceroid Lipofuscinosis Using Patient Specific Induced Pluripotent Stem Cells
|
Swistowski, Andrzej
|
|
2012
|
105 |
2 |
p. S59-S60
2 p.
|
artikel
|
| 50 |
Development of a Psychosine Assay to Identify Therapeutic Small Molecules for Krabbe Disease
|
Maegawa, Gustavo
|
|
2012
|
105 |
2 |
p. S45-
1 p.
|
artikel
|
| 51 |
Development of Efficient and Effective Newborn Screening (NBS) Strategies for Lysosomal Storage Disorders (LSD)
|
Matern, Dietrich
|
|
2012
|
105 |
2 |
p. S45-S46
2 p.
|
artikel
|
| 52 |
Development of MPS IVA Syndrome Cellular Models Using Patient Specific Induced Pluripotent Stem Cells
|
Swistowski, Andrzej
|
|
2012
|
105 |
2 |
p. S60-
1 p.
|
artikel
|
| 53 |
Diagnosis and Monitoring of Mucopolysaccharidoses Using Disease-Specific Non-Reducing End Carbohydrate Biomarkers
|
Brown, Jillian R.
|
|
2012
|
105 |
2 |
p. S23-
1 p.
|
artikel
|
| 54 |
Diagnosis of Mucopolysaccharidosis of a Reference Center Laboratory for Inborn Errors of Metabolism (LEIM) - A Brazilian Experience
|
Rezende, Marina
|
|
2012
|
105 |
2 |
p. S54-
1 p.
|
artikel
|
| 55 |
Diagnosis of Pompe Disease (PD) Using Dried Blood Spots On Filter Paper (DBS) at the Laboratory of a Brazilian Reference Center for Inborn Errors of Metabolism (LEIM)
|
Kyosen, Sandra
|
|
2012
|
105 |
2 |
p. S42-S43
2 p.
|
artikel
|
| 56 |
Diagnostic Testing for MPS VI (Maroteaux-Lamy Syndrome): Laboratory Survey Results and Recommendations from the MPS VI Diagnostic Summit
|
Wood, Tim
|
|
2012
|
105 |
2 |
p. S66-S67
2 p.
|
artikel
|
| 57 |
Differentially expressed angiogenic genes in diabetic erectile tissue — Results from a microarray screening
|
Castela, Ângela
|
|
2012
|
105 |
2 |
p. 255-262
8 p.
|
artikel
|
| 58 |
Do SLC7 Family Members Constitute the Salvage Pathway in the Therapy of Cystinosis?
|
Jaenecke, Isabel
|
|
2012
|
105 |
2 |
p. S37-S38
2 p.
|
artikel
|
| 59 |
Dyslipidemia and Fabry Disease
|
Laney, Dawn
|
|
2012
|
105 |
2 |
p. S43-
1 p.
|
artikel
|
| 60 |
Editorial Board
|
|
|
2012
|
105 |
2 |
p. IFC-
1 p.
|
artikel
|
| 61 |
Effects of Minozak and/or Genistein on the Central Nervous System of Sanfilippo Syndrome Type B mice
|
Gibney, Joseph
|
|
2012
|
105 |
2 |
p. S30-
1 p.
|
artikel
|
| 62 |
Eliglustat, an Investigational Oral Therapy for Gaucher Disease Type 1 (GD1): Updated Phase 2 Results
|
Peterschmitt, M. Judith
|
|
2012
|
105 |
2 |
p. S52-
1 p.
|
artikel
|
| 63 |
Enhanced Kidney and Heart Delivery of α-Galactosidase by Modulating Enzyme Load and Carrier Bulk-Concentration of ICAM-1-Targeted Nanocarriers
|
Hsu, Janet
|
|
2012
|
105 |
2 |
p. S37-
1 p.
|
artikel
|
| 64 |
Enzyme Replacement Therapy for Patients with Alpha-Mannosidosis
|
Borgwardt, Line
|
|
2012
|
105 |
2 |
p. S21-
1 p.
|
artikel
|
| 65 |
Enzyme Replacement Therapy in MPS I Mice: the Sooner The Better?
|
Giugliani, Roberto
|
|
2012
|
105 |
2 |
p. S31-
1 p.
|
artikel
|
| 66 |
Epilepsy in Juvenile Neuronal Ceroid Lipofuscinosis is Usually Characterized by Well- Controlled Generalized Tonic-Clonic Seizures
|
Augustine, Erika
|
|
2012
|
105 |
2 |
p. S18-S19
2 p.
|
artikel
|
| 67 |
Establishment of Thailand National Fabry Disease Screening Program in High-risk Patients
|
Trachoo, Objoon
|
|
2012
|
105 |
2 |
p. S61-
1 p.
|
artikel
|
| 68 |
Evaluation of Brain Volumetrics in an MPS VI Patient With Cervical Cord Compression – A Case Study
|
Hostetler, Lisa
|
|
2012
|
105 |
2 |
p. S36-S37
2 p.
|
artikel
|
| 69 |
Evaluation of GLB1 In a Novel Ovine Model of GM1-Gangliosidosis
|
Ahern-Rindell, Amelia
|
|
2012
|
105 |
2 |
p. S15-
1 p.
|
artikel
|
| 70 |
Evaluation of Globotriaosylceramide (GL-3) Accumulation in 18 Patients with Fabry Disease Nephropathy. Podocytes are More Severely Affected than Peritubular Capillaries
|
Giugliani, Roberto
|
|
2012
|
105 |
2 |
p. S31-
1 p.
|
artikel
|
| 71 |
Evaluation of Plasma Globotriaosylsphingosine in Patients with Anderson-Fabry Disease in Brazil on Enzyme Replacement Therapy with Agalsidase Alfa
|
Lourenco, Charles
|
|
2012
|
105 |
2 |
p. S44-
1 p.
|
artikel
|
| 72 |
Excessive Activity of Cathepsin K is Associated with the Cartilage Defects in a Zebrafish Model For Mucolipidosis II
|
Steet, Richard
|
|
2012
|
105 |
2 |
p. S59-
1 p.
|
artikel
|
| 73 |
Exploring the Use of Pharmacological Chaperone AT3375 Alone and in Combination with Recombinant human ß-Glucosidase for Gaucher Disease
|
Khanna, Richie
|
|
2012
|
105 |
2 |
p. S40-
1 p.
|
artikel
|
| 74 |
Extracellular Heparan Sulfate Oligosaccharides Affect Integrin Signaling and Cell Polarization
|
Bruyere, Julie
|
|
2012
|
105 |
2 |
p. S23-
1 p.
|
artikel
|
| 75 |
Fabry Disease Antibody Standardization Initiative (FASI)
|
Brinks, Vera
|
|
2012
|
105 |
2 |
p. S22-S23
2 p.
|
artikel
|
| 76 |
Fabry Disease Mutations Addressable with Migalastat HCl, an Investigational Chaperone Therapy. Screening Results from FACETS, a Phase 3 Study in Male and Female Patients
|
Bichet, Daniel
|
|
2012
|
105 |
2 |
p. S21-
1 p.
|
artikel
|
| 77 |
Fabry Registry Data Indicate that Early Initiation of Agalsidase Beta Treatment is Associated with Fewer Clinical Events
|
Hopkin, Robert
|
|
2012
|
105 |
2 |
p. S36-
1 p.
|
artikel
|
| 78 |
Feasibility Study in Gaucher and Parkinson Patients to Assess Glutathione Levels in the Brain and Red Blood Cells Following Intravenous N-acetylcysteine
|
Holmay, Mary
|
|
2012
|
105 |
2 |
p. S35-S36
2 p.
|
artikel
|
| 79 |
Gaucher Disease and Multiple Myeloma: A Diagnostic and Treatment Challenge
|
Rosenbaum, Hanna
|
|
2012
|
105 |
2 |
p. S55-
1 p.
|
artikel
|
| 80 |
Gene Expression Profiling of a Mouse Model of Fabry Disease
|
Dworski, Shaalee
|
|
2012
|
105 |
2 |
p. S27-
1 p.
|
artikel
|
| 81 |
Generation of a Novel Mouse Model that Mimics Farber Disease
|
Alayoubi, Abdu
|
|
2012
|
105 |
2 |
p. S16-
1 p.
|
artikel
|
| 82 |
Genetically Determined Storage of Heparan Sulfate Interacts in GalNAc Transferase Null Mice to Confer and Substantially Accelerated MPS III Phenotype
|
Ellinwood, N.
|
|
2012
|
105 |
2 |
p. S28-
1 p.
|
artikel
|
| 83 |
Genetic Variation in a Common Biomarker Encoded By CHIT1
|
Duarte, Ana
|
|
2012
|
105 |
2 |
p. S27-
1 p.
|
artikel
|
| 84 |
Genistein in Sanfilippo Disease: A Randomized Controlled Cross-over Trial
|
de Ruijter, Jessica
|
|
2012
|
105 |
2 |
p. S26-
1 p.
|
artikel
|
| 85 |
Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts
|
Otomo, Takanobu
|
|
2012
|
105 |
2 |
p. 266-269
4 p.
|
artikel
|
| 86 |
Genome-Wide RNAi Screen For Lysosomal Storage Disorders
|
Velayati, Arash
|
|
2012
|
105 |
2 |
p. S63-
1 p.
|
artikel
|
| 87 |
Genotype, Disease Onset, And Neurocognitive Phenotype Of Sanfilippo Syndrome Type A
|
Whitley, Chester B.
|
|
2012
|
105 |
2 |
p. S58-
1 p.
|
artikel
|
| 88 |
Glucocerebrosidase 1 and 2 – Factors to Consider in the Pathogenesis of Parkinson's Disease
|
Burke, Derek
|
|
2012
|
105 |
2 |
p. S23-
1 p.
|
artikel
|
| 89 |
Glucosylceramide Quantitation in Normal and Glucocerebrosidase-Deficient Mouse Brain and Human Cell Lines
|
Brignol, Nastry
|
|
2012
|
105 |
2 |
p. S22-
1 p.
|
artikel
|
| 90 |
Glucosylceramide Synthase Inhibition Reduces Gb3 and Lyso-Gb3 in a Mouse Model Of Fabry Disease
|
Marshall, John
|
|
2012
|
105 |
2 |
p. S45-
1 p.
|
artikel
|
| 91 |
Glutamate Receptors: A Therapeutic Target in Batten Disease
|
Pearce, David
|
|
2012
|
105 |
2 |
p. S51-
1 p.
|
artikel
|
| 92 |
Glycosaminoglycan-induced Immune Responses in Monocytic/Macrophage Cells: First Clues of a Possible Inflammation Process in MPS IVA (Morquio)
|
Zhu, Yiming
|
|
2012
|
105 |
2 |
p. S68-
1 p.
|
artikel
|
| 93 |
Heparan Sulfate in Plasma and Urinary GAG as Biomarkers in Sanfilippo Disease
|
de Ruijter, Jessica
|
|
2012
|
105 |
2 |
p. S26-S27
2 p.
|
artikel
|
| 94 |
Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency
|
Wilson, James M.
|
|
2012
|
105 |
2 |
p. 263-265
3 p.
|
artikel
|
| 95 |
High Dose Rituximab Pretreatment in a New Human cd20-GAA−/− Mouse Model Causes Complete B-Cell Depletion and Reduction in Effector and Memory T-Cell Activation
|
Nayak, Sushrusha
|
|
2012
|
105 |
2 |
p. S48-
1 p.
|
artikel
|
| 96 |
Highly Discordant Phenotype in Siblings with Wolman Syndrome and Absent LAL Enzyme Activity
|
Gargus, J. Jay
|
|
2012
|
105 |
2 |
p. S29-S30
2 p.
|
artikel
|
| 97 |
Identification of Biomarkers During Investigational Therapy for Niemann-Pick Type C Disease
|
Killilea, David
|
|
2012
|
105 |
2 |
p. S40-S41
2 p.
|
artikel
|
| 98 |
Identification of Immunodominant Epitopes in N-Acetylgalactosamine 6-Sulfate Sulfatase (GALNS) for Designing an Effective Peptide-Based Immunotherapy
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Sosa, Angela
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2012
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105 |
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artikel
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IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia
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Coss, K.P.
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2012
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105 |
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p. 212-220
9 p.
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artikel
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Immunological Challenges in Late-Onset Pompe Disease Treated with Enzyme Replacement Therapy
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Patel, Trusha
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2012
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105 |
2 |
p. S50-
1 p.
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artikel
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| 101 |
Impaired Medullary Hematopoiesis in Murine Mucopolysaccharidosis Type I
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Viana, Gustavo
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2012
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105 |
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p. S63-
1 p.
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artikel
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| 102 |
Increased Urinary Globotriaosylceramide and Previously Undiagnosed Fabry Patients are Found in a Non-Selected Heart Disease Patient Population
|
Schiffmann, Raphael
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2012
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105 |
2 |
p. S55-S56
2 p.
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artikel
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| 103 |
Initial Human Experience with SBC-102, a Recombinant Enzyme Replacement Therapy in Adults with Lysosomal Acid Lipase Deficiency
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Enns, Gregory
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2012
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105 |
2 |
p. S29-
1 p.
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artikel
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| 104 |
Intra-articular Enzyme Replacement Therapy with Recombinant Human Iduronidase is Safe and Well Tolerated in the Canine Model of Mucopolysaccharidosis Type I
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Wang, Raymond
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2012
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105 |
2 |
p. S64-
1 p.
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artikel
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| 105 |
Intracerebroventricular (ICV) Recombinant Human Tripeptidyl Peptidase-1 (rhTPP1) Enzyme Replacement Attenuates Disease Progression in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)
|
Vuillemenot, Brian
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2012
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105 |
2 |
p. S63-
1 p.
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artikel
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| 106 |
Intrathecal Hydroxy-Propyl-Beta-Cyclodextrin Reverses Hearing Loss in Identical Twin Girls with Niemann-Pick Type C Disease
|
Hastings, Caroline
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2012
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105 |
2 |
p. S34-
1 p.
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artikel
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| 107 |
Item Reduction and Assessment of Measurement Priorities of The Hunter Syndrome: Functional Outcomes For Clinical Understanding Scale (HS-FOCUS)
|
Wiklund, Ingela
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2012
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105 |
2 |
p. S66-
1 p.
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artikel
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| 108 |
Keratan Sulfate And Chondroitin 6 Sulfate: Expression And Distribution In Human And Mouse, A Review
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Khandelwal, Payal
|
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2012
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105 |
2 |
p. S40-
1 p.
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artikel
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Laboratory Investigation of Pompe Disease
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Bainbridge, Katie
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2012
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105 |
2 |
p. S19-
1 p.
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artikel
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| 110 |
Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy
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Amaral, Olga
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2012
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105 |
2 |
p. S17-
1 p.
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artikel
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| 111 |
Large Animal Models of Lysosomal Storage Diseases: Lessons on the Limits of Gene/Enzyme Therapy
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Haskins, Mark
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2012
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105 |
2 |
p. S33-S34
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artikel
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| 112 |
Leukocytary Hexosaminidase Valoration: A Study in Control Population and Individuals with Neurodegenerative Illnesses
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Argumedo, Nelson
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2012
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105 |
2 |
p. S18-
1 p.
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artikel
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| 113 |
Liver-Directed Gene Therapy for Mucopolysaccharidosis Type I (MPS I)
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Gurda, Brittney
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2012
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105 |
2 |
p. S32-
1 p.
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artikel
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| 114 |
Longitudinal Studies of Brain Structure and Function in MPS disorders: A Study of the Lysosomal Disease Network
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Shapiro, Elsa
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2012
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105 |
2 |
p. S57-
1 p.
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artikel
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| 115 |
Longitudinal Study of Cognition in Patients with Niemann-Pick Disease, Type C
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Patterson, Marc
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2012
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105 |
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p. S50-S51
2 p.
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artikel
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| 116 |
Long Term Bone Marrow Responses, as Measured by Quantitative Chemical Shift Imaging (QCSI) MRI, Following Treatment With Taliglucerase Alfa in Patients with Type 1 Gaucher Disease
|
van Dussen, Laura
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2012
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105 |
2 |
p. S62-S63
2 p.
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artikel
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| 117 |
Long Term Outcome and Clinical Experience on Immune Tolerance Induction Therapies in Infantile Pompe Disease
|
Banugaria, Suhrad
|
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2012
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105 |
2 |
p. S20-
1 p.
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artikel
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| 118 |
Long Term Outcomes of a Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)
|
Hendriksz, Christian
|
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2012
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105 |
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p. S35-
1 p.
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artikel
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| 119 |
Long Term Safety and Efficacy Data of Taliglucerase Alfa, a Plant Cell Expressed Recombinant Glucocerebrosidase, in Treatment Of Naïve Gaucher Disease Patients
|
Zimran, Ari
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2012
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105 |
2 |
p. S68-
1 p.
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artikel
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| 120 |
Lysosomal Disease Network's WORLD Symposium™ 2012
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Whitley, Chester B.
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2012
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105 |
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p. S3-S6
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artikel
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| 121 |
Lysosome-Associated Protein 1 (LAMP-1) and Lysosome-Associated Protein 2 (LAMP-2) in Fabry Disease
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Pereira, Ester
|
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2012
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105 |
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p. S51-S52
2 p.
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artikel
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| 122 |
Lysosome-Associated Protein 1 (LAMP-1) and Lysosome-Associated Protein 2 (LAMP-2)in Fabry Disease
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Pereira, Ester Miranda
|
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2012
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105 |
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p. S46-
1 p.
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artikel
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| 123 |
Medical Comorbidities in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)
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Adams, Heather
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2012
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105 |
2 |
p. S15-
1 p.
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artikel
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| 124 |
Medical Outcomes and Adaptive Functions in Severe and Attenuated MPS I
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Ahmed, Alia
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2012
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105 |
2 |
p. S15-S16
2 p.
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artikel
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| 125 |
Methods of Diagnosis of Patients with Pompe Disease: Data From The Pompe Registry
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Amartino, Hernan
|
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2012
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105 |
2 |
p. S17-S18
2 p.
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artikel
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| 126 |
Mitochondrial complex I deficiency of nuclear origin
|
Pagniez-Mammeri, Hélène
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2012
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105 |
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p. 173-179
7 p.
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artikel
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| 127 |
Mitochondrial complex I deficiency of nuclear origin
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Pagniez-Mammeri, Hélène
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2012
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105 |
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p. 163-172
10 p.
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artikel
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| 128 |
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia
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Jurecka, Agnieszka
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2012
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105 |
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p. 237-243
7 p.
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artikel
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| 129 |
Molecular Characterization of 204 Hunter Syndrome Patients Reveals 60 Novel Mutations
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Pollard, Laura
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2012
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105 |
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p. S53-
1 p.
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artikel
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| 130 |
Mosaicism of Podocyte Involvement in Untreated Females with Fabry Disease
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Najafian, Behzad
|
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2012
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105 |
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p. S47-S48
2 p.
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artikel
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| 131 |
MPS I: Monitoring Plasma And Urine Levels Of Dermatan And Heparan Sulfate During Enzyme Replacement Therapy
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van der Tol, L.
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2012
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105 |
2 |
p. S62-
1 p.
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artikel
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| 132 |
Mucopolysaccharidosis Type IIIA as a Variant of Klüver–Bucy Syndrome: A Comparison of Social/Emotional Characteristics of Children with MPS IIIA to Those With MPS IH
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Potegal, Michael
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2012
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105 |
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p. S53-
1 p.
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artikel
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Mucopolysaccharidosis Type II in Females and Response to Enzyme Replacement Therapy
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Jurecka, Agnieszka
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2012
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105 |
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p. S38-S39
2 p.
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artikel
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Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) With A Predominantly Cardiac Phenotype
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Jurecka, Agnieszka
|
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2012
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105 |
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p. S39-
1 p.
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artikel
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| 135 |
Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Development of Clinical and Laboratory Guidelines for Diagnosis
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Harmatz, Paul
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2012
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105 |
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p. S33-
1 p.
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artikel
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Multiparametric 3.0 Tesla MRI of the Brain in Fabry Disease
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Hanson, Eric
|
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2012
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105 |
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p. S33-
1 p.
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artikel
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Neuroimaging Characteristics in Fabry Disease: White Matter Hyperintensity Volume Assessment in Patients with Fabry Disease
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Sims, Katherine
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2012
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105 |
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p. S58-
1 p.
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artikel
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| 138 |
Newborn Screening for MPS VI in a High-incidence Area of Northeast Brazil: Preliminary Results of a Pilot Program
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Giugliani, Roberto
|
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2012
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105 |
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p. S31-S32
2 p.
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New Methods for Volumetric Analysis of the Canine Hippocampus
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Kovac, Victor
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2012
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105 |
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1 p.
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artikel
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| 140 |
New Techniques in Electrodiagnostics, Determination and Management of Carpal Tunnel Syndrome in Mucopolysaccharidosis
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Pico, Elaine
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2012
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105 |
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p. S52-
1 p.
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artikel
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Niemann-Pick Disease Type C: Significant Clinical Discordance Between Siblings
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van der Tol, Linda
|
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2012
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105 |
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p. S62-
1 p.
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artikel
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Niemann-Pick Type C in Brazil: Natural History and Clinical Course in 42 Patients
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Lourenco, Charles
|
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2012
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105 |
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p. S44-
1 p.
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artikel
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Novel Therapies for the Mucopolysaccharidoses that Target Inflammation & Impact Skeletal Disease
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Simonaro, Calogera
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2012
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105 |
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p. S57-
1 p.
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artikel
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Nutritional stress in eukaryotic cells: Oxidative species and regulation of survival in time of scarceness
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Ferretti, Anabela C.
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2012
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105 |
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7 p.
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Oral Migalastat HCL (AT1001/GR181314A) as an Investigational Therapy Evaluated in Females with Fabry Disease
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Fernhoff, Paul
|
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2012
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105 |
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p. S29-
1 p.
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artikel
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| 146 |
Outcomes Of Enzyme Replacement Therapy (ERT) And Hematopoietic Cell Transplant (HCT) In MPS VI
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Ahmed, Alia
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2012
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105 |
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artikel
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Patient Registries to Support Research in Rare Diseases – Experience from the Rare Diseases Clinical Research Network
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Richesson, Rachel
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2012
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Patients with Type 1 Gaucher Disease in South Florida: Demographic Profile, DS3 Severity Scores and Therapeutic Goals Outcomes
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Orenstein, Marissa
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2012
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105 |
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1 p.
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Phase I/II Trial of Adeno-associated Virus Acid-alpha-Glucosidase (AAV-GAA) Diaphragm Gene Therapy for Ventilatory Failure in Pompe Disease
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Byrne, Barry
|
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2012
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105 |
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p. S24-
1 p.
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artikel
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| 150 |
Phenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry
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Mistry, Pramod
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2012
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105 |
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Placebo Controlled Trial Evaluating Gabapentin for the Treatment of Small Fiber Neuropathic Pain in Patients with Fabry Disease
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Hazaert, Jonica
|
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2012
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105 |
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p. S35-
1 p.
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artikel
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Plant Cell Expressed Recombinant Glucocerebrosidase - Taliglucerase alfa as Therapy for Gaucher Disease in Patients Previously Treated with Imiglucerase
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Pastores, Gregory
|
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2012
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105 |
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p. S50-
1 p.
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artikel
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Pompe Syndrome: Dysregulation of Multiple Facets of Glycogen Metabolism in a Murine Model of Pompe Disease
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Moreland, Rodney
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2012
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105 |
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1 p.
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artikel
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| 154 |
POM-001 Phase 1/2 Study of BMN 701, GILT-tagged Recombinant Human (rh) GAA in Late-Onset Pompe Disease: Preliminary Report
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Byrne, Barry
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2012
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105 |
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1 p.
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artikel
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Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome
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Wang, Lili
|
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2012
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105 |
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p. 203-211
9 p.
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| 156 |
Predicting Cross Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned from 10 Years of Clinical Laboratory Testing Experience
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Bali, Deeksha
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2012
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105 |
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Pregnancy Events in Females with Fabry Disease in the Fabry Outcome Survey
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Hughes, Derralynn
|
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2012
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105 |
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1 p.
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Preliminary Data on the Growth Impact and Safety of Human Growth Hormone Treatment In Children with Hurler and Hunter Syndromes
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Polgreen, Lynda
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2012
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105 |
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Presenting Signs and Symptoms Among Patients with Pompe Disease Enrolled in the Pompe Registry
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Kishnani, Priya
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2012
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105 |
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Prevalence of Fabry Disease in a High Risk U.S. Cohort with Hypertophic Cardiomyopathy and Other Cardiac Diagnoses
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Goss, Kendrick
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2012
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105 |
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1 p.
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Preventing Lysosomal Storage Dysorders by Preimplantation Genetic Diagnosis
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Altarescu, Gheona
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2012
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105 |
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1 p.
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Prolonged High-Level Expression of IDUA from Sleeping Beauty Transposons in Immunocompetent Mice
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Aronovich, Elena
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2012
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105 |
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1 p.
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Prospective Results of Switching Enzyme Replacement Therapy from Agalsidase beta to Agalsidase alfa in the Canadian Fabry Disease Initiative Study
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West, Michael
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2012
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105 |
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p. S64-S65
2 p.
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Pulmonary Disease and Exercise Intolerance in Boys with Fabry Disease: a Pilot Study
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Sun, Angela
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2012
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105 |
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1 p.
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Quality Of Life After Treatment For Mucopolysaccharidoses
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Kunin-Batson, Alicia
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2012
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105 |
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1 p.
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Quantitative Analysis of Ceramides in Urine and Plasma of Fabry Patients
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Boutin, Michel
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2012
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105 |
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p. S21-S22
2 p.
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Quantitative Evaluation of Bones in Murine MPS VII After Replacement Therapy Using Chemically Modified Enzyme
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Tomatsu, Shunji
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2012
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105 |
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Rapid LSD Assays on a Multiplex Digital Microfluidic Platform for Newborn Screening
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Pamula, Vamsee
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2012
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105 |
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Risk Factors For Developing Avascular Necrosis Or Fractures In Patients With Type 1 Gaucher Disease: Analysis From The Gaucher Registry
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Khan, Aneal
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2012
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105 |
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Safety and Efficacy of Velaglucerase Alfa in Patients with Type 1 Gaucher Disease: 2 Years of Treatment in Phase III Trials and an Extension Study
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Zimran, Ari
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2012
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105 |
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1 p.
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SBC-103, a Recombinant Enzyme Replacement Therapy, Demonstrates Potential for the Treatment Of Sanfilippo Syndrome Type B
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Leavitt, Mark
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2012
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105 |
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Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases
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Pérez, Belén
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2012
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Serial ECG, Echocardiography and Holter Monitoring in Children with Anderson-Fabry Disease
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Havranek, Stepan
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2012
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Sisters with MPS I on ERT: A Case Report of a Poorer Outcome for the Younger Sibling
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Cagle, Stephanie
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2012
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Small Molecule Inhibitors of Ganglioside Biosynthesis as Substrate Reduction Therapy for the Gangliosidoses
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Bai, Xiaomei
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2012
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Spatial Navigation and Working Memory Tests Demonstrate Neurological Deficits in a Murine Model of Mucopolysaccharidosis Type II (Hunter Syndrome)
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Nan, Zhenhong Crusoe
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2012
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START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients
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Utz, Jeanine R. Jarnes
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2012
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105 |
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5 p.
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Structural bases of Wolman disease and cholesteryl ester storage disease
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Saito, Seiji
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2012
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5 p.
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Study of the Mechanisms of Osteoclastogenesis Induction in an In Vitro Model of Gaucher Disease
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Rozenfeld, Paula
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2012
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Supplement Title page
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2012
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Suppression of a Nonsense Mutation in a Mouse Model Of Hurler Syndrome
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Keeling, Kim
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2012
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Table of Contents
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Tandem Mass Spectrometry Multiplex Analysis of Lyso-Gb3-Related Analogs for Fabry Disease
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Lavoie, Pamela
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2012
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The Demographics and Distribution of Mutations Associated with Acid Sphingomyelinase-Deficient (Types A & B) Niemann-Pick Disease
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Schuchman, Edward
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2012
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105 |
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The E3 Ligase Itch Regulates Degradation of Mutant Glucocerebrosidase
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Horowitz, Mia
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2012
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The Impact on Health Related Quality of Life (HRQOL) in Patients with Hunter Syndrome
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Wiklund, Ingela
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2012
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105 |
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The Mild Side of MPS Disorders: Are These Cases Being Missed by Urine Screening and Other Common Diagnostic Methods?
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White, Klane
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2012
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105 |
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The Natural History of Late Onset Tay-Sachs Disease
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Yerramilli-Rao, Padmaja
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2012
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The Open Registry Project as a Tool for Research and Clinical Trials
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Suhr, Dean
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2012
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Transport of α-Galactosidase Coupled to ICAM-1-Targeted Nanocarriers Across Gastrointestinal Epithelial Cells
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Ghaffarian, Rasa
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2012
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Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine
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Mudd, S. Harvey
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2012
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105 |
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9 p.
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Two-Year Efficacy And Safety Of Velaglucerase Alfa In Patients With Type 1 Gaucher Disease Switching From Imiglucerase: Phase III Trial HGT-GCB-039 And Extension
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Crombez, Eric
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2012
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105 |
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p. S25-S26
2 p.
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Unraveling the Leukodystrophies: Clinical, Biochemical and Molecular Studies of Sixty Brazilian Patients with Genetic White Matter Disorders
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Lourenco, Charles
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2012
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105 |
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p. S45-
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2012 Update from Longitudinal Studies of the Glycoproteinoses: Highlights From Alpha-mannosidosis
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Cathey, Sara
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2012
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105 |
2 |
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105 |
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| 196 |
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| 197 |
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105 |
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| 198 |
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