| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
33. AAV-mediated gene therapy for the CNS manifestations of the lysosomal storage disorders
|
Crystal, Ronald
|
|
2009
|
96 |
2 |
p. S19-
1 p.
|
artikel
|
| 2 |
6. Accumulation of GM1-ganglioside in ER-mitochondrion microdomains elicits mitochondrial Ca2+ overload and neuronal apoptosis
|
Annunziata, Ida
|
|
2009
|
96 |
2 |
p. S13-
1 p.
|
artikel
|
| 3 |
84. Adeno-associated virus gene therapy of feline gangliosidosis
|
Martin, Douglas
|
|
2009
|
96 |
2 |
p. S30-
1 p.
|
artikel
|
| 4 |
5. Adeno-associated virus mediated gene therapy in a murine model of Morquio syndrome type A
|
Almeciga, Carlos
|
|
2009
|
96 |
2 |
p. S13-
1 p.
|
artikel
|
| 5 |
20. Adipose stem cell-mediated therapy for Krabbe disease
|
Bunnell, Bruce
|
|
2009
|
96 |
2 |
p. S16-
1 p.
|
artikel
|
| 6 |
114. A mouse model of the free sialic acid storage disorders shows decreased myelination of the central nervous system
|
Reimer, Richard
|
|
2009
|
96 |
2 |
p. S37-
1 p.
|
artikel
|
| 7 |
100. A multicentre retrospective survey of miglustat in patients with Niemann-Pick type C disease
|
Patterson, Marc
|
|
2009
|
96 |
2 |
p. S34-
1 p.
|
artikel
|
| 8 |
55. An adjunct rhGAA ERT-small molecule treatment approach for Pompe disease: Pharmacological chaperone AT2220 prevents rhGAA denaturation and loss of enzyme activity
|
Flanagan, John J.
|
|
2009
|
96 |
2 |
p. S24-
1 p.
|
artikel
|
| 9 |
2. Analysis of beta-galactosidase in an ovine model of GM1-gangliosidosis
|
Ahern-Rindell, Amelia
|
|
2009
|
96 |
2 |
p. S12-
1 p.
|
artikel
|
| 10 |
14. A natural history study of hexosaminidase deficiency
|
Bjoraker, Kendra J.
|
|
2009
|
96 |
2 |
p. S15-
1 p.
|
artikel
|
| 11 |
7. An efficient high-risk screening protocol for Fabry disease
|
Auray-Blais, Christiane
|
|
2009
|
96 |
2 |
p. S13-
1 p.
|
artikel
|
| 12 |
80. An endogenous detoxification mechanism in Tay-Sachs disease through taurine-conjugation of ganglioside GM2
|
Li, Yu-Teh
|
|
2009
|
96 |
2 |
p. S29-
1 p.
|
artikel
|
| 13 |
A new surrogate marker for CNS pathology in Niemann–Pick disease type C?
|
Platt, Frances M.
|
|
2009
|
96 |
2 |
p. 53-54
2 p.
|
artikel
|
| 14 |
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD
|
Purevsuren, Jamiyan
|
|
2009
|
96 |
2 |
p. 77-79
3 p.
|
artikel
|
| 15 |
121. Assessment and biochemical diagnosis of MPS IV in Argentina
|
Schenone, Andrea B.
|
|
2009
|
96 |
2 |
p. S38-S39
2 p.
|
artikel
|
| 16 |
34. Assessment of neurological deterioration in subjects with LINCL
|
Crystal, Ronald
|
|
2009
|
96 |
2 |
p. S19-S20
2 p.
|
artikel
|
| 17 |
24. A study of intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I
|
Chen, Agnes
|
|
2009
|
96 |
2 |
p. S17-
1 p.
|
artikel
|
| 18 |
142. A systematic approach towards identifying and treating delayed infusion reactions to enzyme replacement therapy in patients with lysosomal storage disorders
|
Utz, Jeanine
|
|
2009
|
96 |
2 |
p. S43-
1 p.
|
artikel
|
| 19 |
111. Autophagic dysfunction in mucolipidosis type IV patients
|
Puertollano, Rosa
|
|
2009
|
96 |
2 |
p. S36-
1 p.
|
artikel
|
| 20 |
97. Autophagy dysfunction in Alzheimer s disease and other late-age onset neurodegenerative diseases
|
Nixon, Ralph
|
|
2009
|
96 |
2 |
p. S33-
1 p.
|
artikel
|
| 21 |
81. Autophagy in the pathogenesis of Niemann-Pick disease type C
|
Lieberman, Andrew
|
|
2009
|
96 |
2 |
p. S29-S30
2 p.
|
artikel
|
| 22 |
148. A validated disease severity scoring system for gaucher disease type 1
|
Weinreb, Neal
|
|
2009
|
96 |
2 |
p. S45-
1 p.
|
artikel
|
| 23 |
149. Avascular Necrosis in type I Gaucher disease: Analysis of risk factors
|
Weinreb, Neal
|
|
2009
|
96 |
2 |
p. S45-
1 p.
|
artikel
|
| 24 |
108. Behavioral phenotypes in MPS III
|
Potegal, Michael
|
|
2009
|
96 |
2 |
p. S36-
1 p.
|
artikel
|
| 25 |
103. Bilateral coordination in children with Hurler and Hunter syndrome
|
Phillips, Dawn
|
|
2009
|
96 |
2 |
p. S34-S35
2 p.
|
artikel
|
| 26 |
36. Biochemical and molecular findings in a LIMP-2 deficient patient who presented with myoclonic epilepsy and no signs of renal involvement
|
Dardis, Andrea
|
|
2009
|
96 |
2 |
p. S20-
1 p.
|
artikel
|
| 27 |
17. Biological variation and sample collection effects on α-galactosidase A enzyme measurements in Fabry and non-Fabry populations
|
Browning, Marsha
|
|
2009
|
96 |
2 |
p. S15-S16
2 p.
|
artikel
|
| 28 |
56. Bone health and vitamin D deficiency in MPS II and VI
|
Fung, Ellen
|
|
2009
|
96 |
2 |
p. S24-
1 p.
|
artikel
|
| 29 |
96. Canavan disease treatment using glyceryltriacetate
|
Namboodiri, Aryan
|
|
2009
|
96 |
2 |
p. S33-
1 p.
|
artikel
|
| 30 |
16. Cardiac risk stratification for individuals with MPS IH-S: Where we are today
|
Braunlin, Elizabeth
|
|
2009
|
96 |
2 |
p. S15-
1 p.
|
artikel
|
| 31 |
71. Case report of chaperone therapy for Adult Tay-Sachs disease and comparison to an in-silico pharmacokinetic and cellular simulation
|
Keimel, John (Jack)
|
|
2009
|
96 |
2 |
p. S27-
1 p.
|
artikel
|
| 32 |
28. Case studies in mutational analysis: Challenges remain
|
Cooksley, Renee
|
|
2009
|
96 |
2 |
p. S18-
1 p.
|
artikel
|
| 33 |
134. Characterization of neuronal storage in the mucolipidosis type IV murine model
|
Slaugenhaupt, Susan
|
|
2009
|
96 |
2 |
p. S41-S42
2 p.
|
artikel
|
| 34 |
109. Characterizing the neurobehavioral phenotype(s) in MPS III
|
Potegal, Michael
|
|
2009
|
96 |
2 |
p. S36-
1 p.
|
artikel
|
| 35 |
37. Chronic cyclodextrin administration ameliorates clinical symptoms and storage accumulation in Niemann-Pick Type C1 mice
|
Davidson, Cristin
|
|
2009
|
96 |
2 |
p. S20-
1 p.
|
artikel
|
| 36 |
19. Clinical and immunopathologic alterations in Krabbe Rhesus Macaques
|
Bunnell, Bruce
|
|
2009
|
96 |
2 |
p. S16-
1 p.
|
artikel
|
| 37 |
66. Clinical and Radiological study of Farber disease in Egyptian children
|
Hassan, Sawsan
|
|
2009
|
96 |
2 |
p. S26-
1 p.
|
artikel
|
| 38 |
94. Clinical phenotype of North American patients with Hunter syndrome: Data from HOS: The Hunter Outcome Survey
|
Muenzer, Joseph
|
|
2009
|
96 |
2 |
p. S32-S33
2 p.
|
artikel
|
| 39 |
75. Clinical signs and symptoms of Pompe disease in 120 infantile-onset and 373 late-onset patients: A report from the Pompe Registry
|
Kishnani, Priya
|
|
2009
|
96 |
2 |
p. S28-
1 p.
|
artikel
|
| 40 |
22. Collective strength in rare diseases: Longitudinal studies of the glycoproteinoses
|
Cathey, Sara
|
|
2009
|
96 |
2 |
p. S17-
1 p.
|
artikel
|
| 41 |
140. Combined intrathecal iduronidase, intravenous iduronidase and transplantation as therapy for Hurler syndrome
|
Tolar, Jakub
|
|
2009
|
96 |
2 |
p. S43-
1 p.
|
artikel
|
| 42 |
126. Comparative Analysis of brain lipids in Mice, Cats, and Humans with Sandhoff disease
|
Seyfried, Thomas
|
|
2009
|
96 |
2 |
p. S40-
1 p.
|
artikel
|
| 43 |
119. Comparison of cardiac pathology in three strains of murine mucopolysaccharidosis type I: Considering the role of auto-immune pathogenesis in Hurler syndrome
|
Sandberg, Sherri
|
|
2009
|
96 |
2 |
p. S38-
1 p.
|
artikel
|
| 44 |
23. Comparison of concordance ratios of symptom onset in metachromatic leukodystrophy (MLD): Sib pairs suggests clinical benefit of preymptomatic hematopoietic cell transplant (HCT)
|
Charnas, Lawrence
|
|
2009
|
96 |
2 |
p. S17-
1 p.
|
artikel
|
| 45 |
3. Computer-assisted teaching of mucopolysaccharidosis by patient management problems
|
Al-Jasmi, Fatma
|
|
2009
|
96 |
2 |
p. S12-
1 p.
|
artikel
|
| 46 |
123. Construction & characterization of mutation-specific mouse models for Types A and B Niemann–Pick disease
|
Schuchman, Edward
|
|
2009
|
96 |
2 |
p. S39-
1 p.
|
artikel
|
| 47 |
Cover 2 / Ed. Board
|
|
|
2009
|
96 |
2 |
p. IFC-
1 p.
|
artikel
|
| 48 |
76. CRIM responses in Pompe disease
|
Kishnani, Priya
|
|
2009
|
96 |
2 |
p. S28-
1 p.
|
artikel
|
| 49 |
77. Cross-reacting immunologic material status affects outcomes in infants with Pompe disease treated with alglucosidase alfa
|
Koeberl, Dwight
|
|
2009
|
96 |
2 |
p. S28-S29
2 p.
|
artikel
|
| 50 |
113. Development of an improved assay for measuring GAA enzyme activity in Ficoll-isolated peripheral blood mononuclear cells
|
Ranes, Brian
|
|
2009
|
96 |
2 |
p. S37-
1 p.
|
artikel
|
| 51 |
48. Diagnostic delay in GM2 gangliosidosis
|
Eichler, Florian
|
|
2009
|
96 |
2 |
p. S22-
1 p.
|
artikel
|
| 52 |
25. Direct dried blood spot assay of α-l-iduronidase by tandem mass spectrometry
|
Chuang, WeiLien
|
|
2009
|
96 |
2 |
p. S17-
1 p.
|
artikel
|
| 53 |
154. Disease stability in patients with Niemann–Pick disease type C treated with miglustat
|
Wraith, Ed
|
|
2009
|
96 |
2 |
p. S46-
1 p.
|
artikel
|
| 54 |
53. DTI with quantitative tractography as a marker of disease progression in newborns with Krabbe disease
|
Escolar, Maria L.
|
|
2009
|
96 |
2 |
p. S23-S24
2 p.
|
artikel
|
| 55 |
147. Early treatment initiation for MPS reduces severity of brain imaging abnormalities
|
Wang, Raymond
|
|
2009
|
96 |
2 |
p. S44-S45
2 p.
|
artikel
|
| 56 |
143. Effects of lysosomotropic and potentally therapeutic dietary agents on TRPML and other channels involved in lysosomal disorders
|
Vassilev, Peter
|
|
2009
|
96 |
2 |
p. S43-S44
2 p.
|
artikel
|
| 57 |
141. Enhancement of drug delivery to bone: enzyme replacement therapy for murine Morquio syndrome type A
|
Tomatsu, Shunji
|
|
2009
|
96 |
2 |
p. S43-
1 p.
|
artikel
|
| 58 |
29. Enzyme reduction therapy as adjunct to cord cell transplant in Hurler syndrome
|
Corley, Kathy
|
|
2009
|
96 |
2 |
p. S18-
1 p.
|
artikel
|
| 59 |
38. Enzyme replacement in animal models of the late infantile form of Batten disease
|
Davidson, Beverly
|
|
2009
|
96 |
2 |
p. S20-
1 p.
|
artikel
|
| 60 |
Enzyme replacement therapy in pediatric patients with Gaucher disease: What should we use as maintenance dosage?
|
Brunel-Guitton, Catherine
|
|
2009
|
96 |
2 |
p. 73-76
4 p.
|
artikel
|
| 61 |
13. Enzyme replacement therapy with Alglucosidase alfa in juvenile-adult glycogenosis type 2 patients
|
Bembi, Bruno
|
|
2009
|
96 |
2 |
p. S14-S15
2 p.
|
artikel
|
| 62 |
63. Enzyme replacement therapy with imiglucerase in Indian patients with Gaucher disease
|
Gupta, Neerja
|
|
2009
|
96 |
2 |
p. S26-
1 p.
|
artikel
|
| 63 |
104. Exploiting mesenchymal stem cell biology for neurologic disorders
|
Phinney, Donald
|
|
2009
|
96 |
2 |
p. S35-
1 p.
|
artikel
|
| 64 |
86. Ex vivo lentiviral gene transfer targeting hematopoietic stem cells for therapy of mucopolysaccharidosis type II, Hunter syndrome
|
McIvor, R. Scott
|
|
2009
|
96 |
2 |
p. S30-S31
2 p.
|
artikel
|
| 65 |
128. Fabry disease: Correlation of progression of white matter disease and severity of neurological manifestations with the pulvinar sign
|
Shankar, Suma
|
|
2009
|
96 |
2 |
p. S40-
1 p.
|
artikel
|
| 66 |
18. Fabry disease identification
|
Browning, Marsha
|
|
2009
|
96 |
2 |
p. S16-
1 p.
|
artikel
|
| 67 |
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia
|
Di Leo, Enza
|
|
2009
|
96 |
2 |
p. 66-72
7 p.
|
artikel
|
| 68 |
45. Functional evaluation of recombinant human N-acetylgalactosamine-6-sulfate sulfatase as enzyme replacement therapy
|
Dvorak-Ewell, Melita
|
|
2009
|
96 |
2 |
p. S22-
1 p.
|
artikel
|
| 69 |
144. Gait analysis in 2 cases of Hunter syndrome
|
Viskochil, David
|
|
2009
|
96 |
2 |
p. S44-
1 p.
|
artikel
|
| 70 |
131. Gaucher disease and parkinsonism
|
Sidranskyu, Ellen
|
|
2009
|
96 |
2 |
p. S41-
1 p.
|
artikel
|
| 71 |
151. Gene therapy for Tay-Sachs disease
|
Whitley, Chester
|
|
2009
|
96 |
2 |
p. S45-S46
2 p.
|
artikel
|
| 72 |
65. Gene therapy of MPS I mice using the Sleeping Beauty Transposon system
|
Hackett, Perry
|
|
2009
|
96 |
2 |
p. S26-
1 p.
|
artikel
|
| 73 |
31. Genotype frequencies in the MPS I Registry
|
Cox, Gerald F.
|
|
2009
|
96 |
2 |
p. S19-
1 p.
|
artikel
|
| 74 |
102. Genz-112638, an investigational oral treatment for Gaucher disease type 1: Preliminary Phase 2 clinical trial results
|
Peterschmitt, Judith
|
|
2009
|
96 |
2 |
p. S34-
1 p.
|
artikel
|
| 75 |
64. GM1-gangliosidosis presenting as nonimmune hydrops fetalis: Another case report
|
Gupta, Neerja
|
|
2009
|
96 |
2 |
p. S26-
1 p.
|
artikel
|
| 76 |
138. GM2 gangliosidosis type B1: Case report
|
Szlago, Marina
|
|
2009
|
96 |
2 |
p. S42-
1 p.
|
artikel
|
| 77 |
135. Going the extra mile: Strategies to deliver enzyme to resistant sites including delivery across the blood–brain barrier
|
Sly, William
|
|
2009
|
96 |
2 |
p. S42-
1 p.
|
artikel
|
| 78 |
93. Health, developmental, and functional outcome surveillance in preschool children with lysosomal storage diseases (LSD)
|
Msall, Michael
|
|
2009
|
96 |
2 |
p. S32-
1 p.
|
artikel
|
| 79 |
106. High prevalence of low bone mineral density in children with hurler syndrome after hematopoietic stem cell transplantation
|
Polgreen, Lynda
|
|
2009
|
96 |
2 |
p. S35-
1 p.
|
artikel
|
| 80 |
155. High Throughput screen for identifying small molecule modulators of alpha-glucosidase for the potential treatment of Pompe disease
|
Zheng, Wei
|
|
2009
|
96 |
2 |
p. S46-
1 p.
|
artikel
|
| 81 |
132. Home enzyme replacement therapy for paediatric lysosomal storage disorders: The Manchester experience
|
Simon, Jones
|
|
2009
|
96 |
2 |
p. S41-
1 p.
|
artikel
|
| 82 |
46. Human primary chondrocytes, a relevant model of mucopolysaccharidosis IVA, internalize N-acetylgalactosamine-6-sulfate sulfatase into lysosomes, resulting in clearance of keratan sulfate
|
Dvorak-Ewell, Melita
|
|
2009
|
96 |
2 |
p. S22-
1 p.
|
artikel
|
| 83 |
118. Identification of a novel lysosomal membrane protein mutated in the Cbl F defect of vitamin B12 metabolism
|
Rutsch, Frank
|
|
2009
|
96 |
2 |
p. S38-
1 p.
|
artikel
|
| 84 |
116. Identification of pharmacological chaperones for feline and human GM1 gangliosidosis
|
Rigat, Brigitte
|
|
2009
|
96 |
2 |
p. S37-S38
2 p.
|
artikel
|
| 85 |
117. IGF-1 resistance is a reversible feature of late-onset acid maltase deficiency (AMD)
|
Roe, Charles
|
|
2009
|
96 |
2 |
p. S38-
1 p.
|
artikel
|
| 86 |
115. Immune-modulation therapy in a CRIM negative Pompe disease patient blocks antibody formation towards Myozyme, reverses cardiomyopathy, and prolongs survival
|
Rhead, William
|
|
2009
|
96 |
2 |
p. S37-
1 p.
|
artikel
|
| 87 |
30. Immunoliposome-based, non-viral gene delivery in a knock-out mouse model of Lafora inclusion body disease
|
Cornford, Eain
|
|
2009
|
96 |
2 |
p. S19-
1 p.
|
artikel
|
| 88 |
10. Impairment of autophagy in lysosomal storage diseases
|
Ballabio, Andrea
|
|
2009
|
96 |
2 |
p. S14-
1 p.
|
artikel
|
| 89 |
11. Increasing expression of glucosylceramide-synthesizing enzyme in mouse models of Gaucher disease
|
Barnes, Sonya
|
|
2009
|
96 |
2 |
p. S14-
1 p.
|
artikel
|
| 90 |
61. Inflammatory profile in the CNS of a GLD murine model during the disease progression
|
Gritti, Angela
|
|
2009
|
96 |
2 |
p. S25-
1 p.
|
artikel
|
| 91 |
57. Initiating enzyme replacement therapy in young child diagnosed with Hunter syndrome shortly after approval of idursulfase
|
Gold, June-Anne
|
|
2009
|
96 |
2 |
p. S24-
1 p.
|
artikel
|
| 92 |
52. Integration of multi-site clinical research data into a centralized resource
|
Erickson, David CC
|
|
2009
|
96 |
2 |
p. S23-
1 p.
|
artikel
|
| 93 |
68. Interaction between parkin and glucocerebrosidase: A possible link between Parkinson disease and Gaucher disease
|
Horowitz, Mia
|
|
2009
|
96 |
2 |
p. S27-
1 p.
|
artikel
|
| 94 |
32. International patient survey demonstrates treatment satisfaction for mucopolysaccharidosis I
|
Cox, Gerald F.
|
|
2009
|
96 |
2 |
p. S19-
1 p.
|
artikel
|
| 95 |
40. Intrathecal ERT for cognitive decline in MPS I
|
Dickson, Patricia
|
|
2009
|
96 |
2 |
p. S21-
1 p.
|
artikel
|
| 96 |
137. In vivo evaluation of small molecule therapy on Gaucher disease mouse models
|
Sun, Ying
|
|
2009
|
96 |
2 |
p. S42-
1 p.
|
artikel
|
| 97 |
58. Longitudinal natural history studies of Wolman and cholesteryl ester storage diseases
|
Grabowski, Gregory
|
|
2009
|
96 |
2 |
p. S25-
1 p.
|
artikel
|
| 98 |
92. Longitudinal studies in Batten disease
|
Mink, Jonathan
|
|
2009
|
96 |
2 |
p. S32-
1 p.
|
artikel
|
| 99 |
129. Longitudinal studies of brain structure and function in MPS disorders
|
Shapiro, Elsa
|
|
2009
|
96 |
2 |
p. S40-
1 p.
|
artikel
|
| 100 |
107. Longitudinal study of bone disease and the impact of growth hormone treatment in MPS I, II, and VI
|
Polgreen, Lynda
|
|
2009
|
96 |
2 |
p. S35-
1 p.
|
artikel
|
| 101 |
101. Longitudinal study of cognition in subjects with Niemann-Pick disease, type C
|
Patterson, Marc
|
|
2009
|
96 |
2 |
p. S34-
1 p.
|
artikel
|
| 102 |
99. Long-term clinical trial with miglustat in Niemann-Pick disease type C
|
Patterson, Marc
|
|
2009
|
96 |
2 |
p. S33-S34
2 p.
|
artikel
|
| 103 |
Lysosomal Disease Network’s “WORLD Symposium 2009”
|
Whitley, Chester B.
|
|
2009
|
96 |
2 |
p. S3-S5
3 p.
|
artikel
|
| 104 |
74. Membrane traffic and cell death in mucolipidosis type IV
|
Kiselyov, Kirill
|
|
2009
|
96 |
2 |
p. S28-
1 p.
|
artikel
|
| 105 |
120. Metabolic and clinical adaptations to interrupted lysosomal recycling
|
Sands, Mark
|
|
2009
|
96 |
2 |
p. S38-
1 p.
|
artikel
|
| 106 |
67. Metabolic profiling of infantile neuronal ceroid lipofuscinosis
|
Hofmann, Sandra
|
|
2009
|
96 |
2 |
p. S26-S27
2 p.
|
artikel
|
| 107 |
47. Metachromatic leukodystrophy: A scoring system for brain MR observations
|
Eichler, Florian
|
|
2009
|
96 |
2 |
p. S22-
1 p.
|
artikel
|
| 108 |
110. Mice double-deficient in lysosomal hexosaminidase A and sialidase Neu4 show epileptic crises accompanied by rapid loss of cortical and hippocampal neurons
|
Pshezhetsky, Alexey
|
|
2009
|
96 |
2 |
p. S36-
1 p.
|
artikel
|
| 109 |
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy
|
Galanaud, Damien
|
|
2009
|
96 |
2 |
p. 55-58
4 p.
|
artikel
|
| 110 |
122. Mucolipidosis type IV is both a developmental brain disease and a degenerative retinopathy
|
Schiffmann, Raphael
|
|
2009
|
96 |
2 |
p. S39-
1 p.
|
artikel
|
| 111 |
150. Musculoskeletal health in MPS II: Pediatric Outcomes Data Collection Instrument (PODCI) demonstrates functional improvements in patients on ERT
|
White, Klane
|
|
2009
|
96 |
2 |
p. S45-
1 p.
|
artikel
|
| 112 |
85. Natural history and structural–functional relationships in Fabry renal disease
|
Mauer, Michael
|
|
2009
|
96 |
2 |
p. S30-
1 p.
|
artikel
|
| 113 |
35. NEU1 is a negative regulator of lysosomal exocytosis
|
d’Azzo, Alessandra
|
|
2009
|
96 |
2 |
p. S20-
1 p.
|
artikel
|
| 114 |
60. Neural precursor cell cultures from GM2-gangliosidosis murine models recapitulate the biochemical hallmarks of the brain pathology
|
Gritti, Angela
|
|
2009
|
96 |
2 |
p. S25-
1 p.
|
artikel
|
| 115 |
78. Neuropathology of long-lived twitcher mice after bone marrow transplantation
|
Kondo, Yoichi
|
|
2009
|
96 |
2 |
p. S29-
1 p.
|
artikel
|
| 116 |
130. Neuropsychological outcomes in Hurler syndrome: 7–20 years post-hematopoietic stem cell transplantion
|
Shapiro, Elsa
|
|
2009
|
96 |
2 |
p. S40-S41
2 p.
|
artikel
|
| 117 |
88. Neurosteroid treatment of lysosomal storage disorders
|
Mellon, Synthia
|
|
2009
|
96 |
2 |
p. S31-
1 p.
|
artikel
|
| 118 |
1. New developments in biomarkers for lysosomal storage disorders
|
Aerts, Johannes
|
|
2009
|
96 |
2 |
p. S12-
1 p.
|
artikel
|
| 119 |
70. Niemann-Pick disease type C and inflammatory Bowel diseases: Is there any correlation?
|
Jacklin, Elizabeth
|
|
2009
|
96 |
2 |
p. S27-
1 p.
|
artikel
|
| 120 |
133. Novel biomarkers and therapies for the mucopolysaccharidoses
|
Simonaro, Calogera
|
|
2009
|
96 |
2 |
p. S41-
1 p.
|
artikel
|
| 121 |
8. Novel enzyme replacement therapy for Gaucher disease: Ongoing Phase III clinical trial with recombinant human glucocerebrosidase expressed in plant cells
|
Aviezer, David
|
|
2009
|
96 |
2 |
p. S13-S14
2 p.
|
artikel
|
| 122 |
69. NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a potential step in cholesterol egress from lysosomes
|
Infante, Rodney
|
|
2009
|
96 |
2 |
p. S27-
1 p.
|
artikel
|
| 123 |
41. Optimizing data collection tools: A strategy for the Lysosomal Disease Network
|
Diethelm-Okita, Brenda
|
|
2009
|
96 |
2 |
p. S21-
1 p.
|
artikel
|
| 124 |
44. Outcomes of children transplanted for Krabbe disease
|
Duffner, Patricia
|
|
2009
|
96 |
2 |
p. S21-S22
2 p.
|
artikel
|
| 125 |
87. Outcomes of testing Lentivector-mediated Gene Therapy for Farber Disease in Non-Human Primates
|
Medin, Jeffrey
|
|
2009
|
96 |
2 |
p. S31-
1 p.
|
artikel
|
| 126 |
4. Phase I trial of pyrimethamine to treat LOTS
|
Almassian, Bijan
|
|
2009
|
96 |
2 |
p. S12-S13
2 p.
|
artikel
|
| 127 |
95. Podocyte injury and GL-3 accumulation are progressive in Fabry disease
|
Najafian, Behzad
|
|
2009
|
96 |
2 |
p. S33-
1 p.
|
artikel
|
| 128 |
125. Pompe disease: Egyptian experience with myozyme replacement therapy
|
Selim, Laila
|
|
2009
|
96 |
2 |
p. S39-
1 p.
|
artikel
|
| 129 |
9. Potential combination therapies stemming from strategies against LSDs and PADs
|
Bahr, Ben A.
|
|
2009
|
96 |
2 |
p. S14-
1 p.
|
artikel
|
| 130 |
90. Progression of cardiac manifestation on enzyme replacement therapy in a 4–6/12-year-old patient with mucopolysaccharidosis type II, Hunter syndrome
|
Mercimek-Mahmutoglu, Saadet
|
|
2009
|
96 |
2 |
p. S31-S32
2 p.
|
artikel
|
| 131 |
89. Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type IH prior to hematopoietic stem cell transplantation
|
Mercimek-Mahmutoglu, Saadet
|
|
2009
|
96 |
2 |
p. S31-
1 p.
|
artikel
|
| 132 |
72. Proteostasis
|
Kelly, Jeffery
|
|
2009
|
96 |
2 |
p. S27-S28
2 p.
|
artikel
|
| 133 |
91. P62/Sequestosome 1 accumulates in the CNS of lysosomal diseases
|
Micsenyi, Matthew
|
|
2009
|
96 |
2 |
p. S32-
1 p.
|
artikel
|
| 134 |
50. Pulmonary arterial hypertension in Gaucher disease: Predictors of progression and effect of enzyme replacement therapy
|
Elstein, Deborah
|
|
2009
|
96 |
2 |
p. S23-
1 p.
|
artikel
|
| 135 |
152. Pulmonary disease and exercise tolerance in boys with fabry disease
|
Wilcox, William
|
|
2009
|
96 |
2 |
p. S46-
1 p.
|
artikel
|
| 136 |
59. Recruitment for Gaucher clinical trials: Easier said than done
|
Grinzaid, Karen
|
|
2009
|
96 |
2 |
p. S25-
1 p.
|
artikel
|
| 137 |
127. Regulation of phagocytosis in macrophages by the Neu1 sialidase
|
Seyrantepe, Volkan
|
|
2009
|
96 |
2 |
p. S40-
1 p.
|
artikel
|
| 138 |
139. Remarkable reversal of pathology in Pompe mice by conversion of Type II to Type I muscle fibers by transgenic expression of PGC-1 alpha
|
Takikita, Shoichi
|
|
2009
|
96 |
2 |
p. S42-S43
2 p.
|
artikel
|
| 139 |
39. Results from a pilot quality control program for lysosomal storage disorder newborn screening
|
Jesus, Victor De
|
|
2009
|
96 |
2 |
p. S20-S21
2 p.
|
artikel
|
| 140 |
124. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship
|
Schulz, Angela
|
|
2009
|
96 |
2 |
p. S39-
1 p.
|
artikel
|
| 141 |
15. Role of LAMP2 in neuronal autophagy
|
Blanz, Judith
|
|
2009
|
96 |
2 |
p. S15-
1 p.
|
artikel
|
| 142 |
112. Role of Saposin C in multivesicular body bioformation and Neuropathogenesis
|
Qi, Xiaoyang
|
|
2009
|
96 |
2 |
p. S36-S37
2 p.
|
artikel
|
| 143 |
54. Sanfilippo syndrome type C: Novel mutations in the HGSNAT gene
|
Feldhammer, Matthew
|
|
2009
|
96 |
2 |
p. S24-
1 p.
|
artikel
|
| 144 |
26. Severe hydrocephalus in mucolipidosis type II: A case report
|
Clark, Heather
|
|
2009
|
96 |
2 |
p. S18-
1 p.
|
artikel
|
| 145 |
98. Small molecule therapies for neurologic manifestations of LSD in humans
|
Patterson, Marc
|
|
2009
|
96 |
2 |
p. S33-
1 p.
|
artikel
|
| 146 |
62. Spatio-temporal development of structural and functional abnormalities of heparan sulfate in the brain of a mouse model of Hurler syndrome
|
Gupta, Pankaj
|
|
2009
|
96 |
2 |
p. S25-S26
2 p.
|
artikel
|
| 147 |
105. Statistical analysis methods and considerations in rare diseases
|
Poe, Michele
|
|
2009
|
96 |
2 |
p. S35-
1 p.
|
artikel
|
| 148 |
136. Strategies to fight an orphan disease
|
Stehr, Frank
|
|
2009
|
96 |
2 |
p. S42-
1 p.
|
artikel
|
| 149 |
82. Substrate reduction therapy in Niemann-Pick disease type C: Report of five Brazilian patients
|
Lourenco, Charles
|
|
2009
|
96 |
2 |
p. S30-
1 p.
|
artikel
|
| 150 |
27. Substrate reduction therapy with miglustat in juvenile GM2 gangliosidosis
|
Clarke, Joe T.R.
|
|
2009
|
96 |
2 |
p. S18-
1 p.
|
artikel
|
| 151 |
Supplement Title page
|
|
|
2009
|
96 |
2 |
p. S1-
1 p.
|
artikel
|
| 152 |
146. Suppression of a Nonsense mutation in a mouse model of Hurler syndrome
|
Wang, Dan
|
|
2009
|
96 |
2 |
p. S44-
1 p.
|
artikel
|
| 153 |
12. Suppression of a nonsense mutation in a mouse model of Hurler syndrome
|
Bedwell, David
|
|
2009
|
96 |
2 |
p. S14-
1 p.
|
artikel
|
| 154 |
153. Syngeneic Bone marrow transplantation in a murine model of mucopolysaccharidosis type I
|
Wolf, Daniel
|
|
2009
|
96 |
2 |
p. S46-
1 p.
|
artikel
|
| 155 |
Table of Contents
|
|
|
2009
|
96 |
2 |
p. iii-iv
nvt p.
|
artikel
|
| 156 |
83. The effects of altering calcium homeostasis on mutant enzyme activity in chronic Tay-Sachs disease and Gaucher disease patient cells treated with pharmacological chaperones
|
Mahuran, Don
|
|
2009
|
96 |
2 |
p. S30-
1 p.
|
artikel
|
| 157 |
145. The greater lysosomal system and lysosomal disease
|
Walkley, Steven
|
|
2009
|
96 |
2 |
p. S44-
1 p.
|
artikel
|
| 158 |
51. The identification of relationship between GC genotype and Gaucher disease with proteomic analysis
|
Emre, Serap
|
|
2009
|
96 |
2 |
p. S23-
1 p.
|
artikel
|
| 159 |
73. The need for standardization of immunogenicity assays for Gaucher disease enzyme replacement therapies
|
Keutzer, Joan
|
|
2009
|
96 |
2 |
p. S28-
1 p.
|
artikel
|
| 160 |
43. Therapeutic effect of recombinant human lysosomal acid lipase in nonalcoholic fatty liver disease mouse model
|
Du, Hong
|
|
2009
|
96 |
2 |
p. S21-
1 p.
|
artikel
|
| 161 |
156. The role of neuropsychological testing in clinical research on lysosomal diseases
|
Ziegler, Richard
|
|
2009
|
96 |
2 |
p. S46-S47
2 p.
|
artikel
|
| 162 |
79. The trigeminal retrograde transfer pathway in LSD gene therapy
|
Kyrkanides, Stephanos
|
|
2009
|
96 |
2 |
p. S29-
1 p.
|
artikel
|
| 163 |
49. Treatment from birth improves the efficacy of intravenous rhIDU in MPS I dogs
|
Ellinwood, Matthew
|
|
2009
|
96 |
2 |
p. S22-S23
2 p.
|
artikel
|
| 164 |
21. Treatment strategies for Pompe disease: Lessons from preclincal and clinical studies
|
Byrne, Barry
|
|
2009
|
96 |
2 |
p. S17-
1 p.
|
artikel
|
| 165 |
Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family
|
Wang, Jing
|
|
2009
|
96 |
2 |
p. 59-65
7 p.
|
artikel
|
| 166 |
42. Wolman disease/cholesteryl ester storage disease: Efficacy of plant-produced human lysosomal acid lipase in mice
|
Du, Hong
|
|
2009
|
96 |
2 |
p. S21-
1 p.
|
artikel
|
| 167 |
WORLD Symposium 2009 Program
|
|
|
2009
|
96 |
2 |
p. S6-S11
6 p.
|
artikel
|
Tijdschrift beschrijving