| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accuracy of formula preparation equipment for liquid measurement
|
Evans, Sharon
|
|
2014
|
1 |
C |
p. 141-147
7 p.
|
artikel
|
| 2 |
A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling
|
Velho, Renata Voltolini
|
|
2014
|
1 |
C |
p. 98-102
5 p.
|
artikel
|
| 3 |
Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome
|
Liegel, Ryan P.
|
|
2014
|
1 |
C |
p. 299-311
13 p.
|
artikel
|
| 4 |
A novel mutation in the leptin gene (W121X) in an Egyptian family
|
Mazen, Inas
|
|
2014
|
1 |
C |
p. 474-476
3 p.
|
artikel
|
| 5 |
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome
|
Shimbo, Hiroko
|
|
2014
|
1 |
C |
p. 133-138
6 p.
|
artikel
|
| 6 |
Association of genetic variants of the incretin-related genes with quantitative traits and occurrence of type 2 diabetes in Japanese
|
Enya, Mayumi
|
|
2014
|
1 |
C |
p. 350-361
12 p.
|
artikel
|
| 7 |
A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies
|
Landsverk, Megan L.
|
|
2014
|
1 |
C |
p. 451-454
4 p.
|
artikel
|
| 8 |
ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA
|
Bahena-Bahena, D.
|
|
2014
|
1 |
C |
p. 203-212
10 p.
|
artikel
|
| 9 |
Biochemical and physiological improvement in a mouse model of Smith–Lemli–Opitz syndrome (SLOS) following gene transfer with AAV vectors
|
Ying, Lee
|
|
2014
|
1 |
C |
p. 103-113
11 p.
|
artikel
|
| 10 |
Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?
|
Boraldi, Federica
|
|
2014
|
1 |
C |
p. 477-482
6 p.
|
artikel
|
| 11 |
Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report
|
Ribeiro, Erlane Marques
|
|
2014
|
1 |
C |
p. 422-424
3 p.
|
artikel
|
| 12 |
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis
|
Yamada, Kenichiro
|
|
2014
|
1 |
C |
p. 455-460
6 p.
|
artikel
|
| 13 |
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
|
Harvengt, Julie
|
|
2014
|
1 |
C |
p. 223-231
9 p.
|
artikel
|
| 14 |
Comments on ‘Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures’ in Molecular Genetics and Metabolism' 2014 Mar;111(3):404-7 by M.G. de Roo, N.G. Abeling, C.B. Majoie, A.M. Bosch, J.H. Koelman, J.M. Cobben, M. Duran, B.T. Poll-The
|
van der Stoep, Nienke
|
|
2014
|
1 |
C |
p. 220-222
3 p.
|
artikel
|
| 15 |
Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy
|
Kruszka, Paul S.
|
|
2014
|
1 |
C |
p. 237-240
4 p.
|
artikel
|
| 16 |
Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots
|
Ullal, Anirudh J.
|
|
2014
|
1 |
C |
p. 465-467
3 p.
|
artikel
|
| 17 |
Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots
|
Ullal, Anirudh J.
|
|
2014
|
1 |
C |
p. 461-464
4 p.
|
artikel
|
| 18 |
Development of catecholamine and cortisol stress responses in zebrafish
|
Eto, Kaoru
|
|
2014
|
1 |
C |
p. 373-377
5 p.
|
artikel
|
| 19 |
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
|
Murali, Chaya
|
|
2014
|
1 |
C |
p. 213-219
7 p.
|
artikel
|
| 20 |
Differential hexosamine biosynthetic pathway gene expression with type 2 diabetes
|
Coomer, Megan
|
|
2014
|
1 |
C |
p. 158-169
12 p.
|
artikel
|
| 21 |
Disease-associated marked hyperalphalipoproteinemia
|
Hirano, Ken-ichi
|
|
2014
|
1 |
C |
p. 264-268
5 p.
|
artikel
|
| 22 |
Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW
|
Granadillo, Jorge L.
|
|
2014
|
1 |
C |
p. 61-65
5 p.
|
artikel
|
| 23 |
Editorial
|
McCabe, Ed
|
|
2014
|
1 |
C |
p. 1-
1 p.
|
artikel
|
| 24 |
Effect of isolated AMP deaminase deficiency on skeletal muscle function
|
Cheng, Jidong
|
|
2014
|
1 |
C |
p. 51-59
9 p.
|
artikel
|
| 25 |
Effects of intracerebroventricular administration of 2-hydroxypropyl-β-cyclodextrin in a patient with Niemann–Pick Type C disease
|
Matsuo, Muneaki
|
|
2014
|
1 |
C |
p. 391-400
10 p.
|
artikel
|
| 26 |
Elevated autophagy and mitochondrial dysfunction in the Smith–Lemli–Opitz Syndrome
|
Chang, Shaohua
|
|
2014
|
1 |
C |
p. 431-442
12 p.
|
artikel
|
| 27 |
Enzyme replacement therapy and antibodies in late-onset Pompe disease
|
Schneider, I.
|
|
2014
|
1 |
C |
p. 232-234
3 p.
|
artikel
|
| 28 |
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency
|
Niemi, Anna-Kaisa
|
|
2014
|
1 |
C |
p. 129-132
4 p.
|
artikel
|
| 29 |
Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease
|
Sheth, Jayesh
|
|
2014
|
1 |
C |
p. 425-430
6 p.
|
artikel
|
| 30 |
Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients
|
de Alencar, Dayse Oliveira
|
|
2014
|
1 |
C |
p. 414-421
8 p.
|
artikel
|
| 31 |
Female adipocyte androgen synthesis and the effects of insulin
|
Cadagan, David
|
|
2014
|
1 |
C |
p. 254-263
10 p.
|
artikel
|
| 32 |
Frequency of de novo mutations in Japanese patients with Fabry disease
|
Kobayashi, Masahisa
|
|
2014
|
1 |
C |
p. 283-287
5 p.
|
artikel
|
| 33 |
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru
|
Pineda, Tatiana
|
|
2014
|
1 |
C |
p. 468-473
6 p.
|
artikel
|
| 34 |
Glutaric Aciduria type I and acute renal failure — Coincidence or causality?
|
Pode-Shakked, Ben
|
|
2014
|
1 |
C |
p. 170-175
6 p.
|
artikel
|
| 35 |
Growth charts for patients with Hunter syndrome
|
Patel, Pravin
|
|
2014
|
1 |
C |
p. 5-18
14 p.
|
artikel
|
| 36 |
Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease
|
Papadopoulos, C.
|
|
2014
|
1 |
C |
p. 2-4
3 p.
|
artikel
|
| 37 |
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
|
Amartino, H.
|
|
2014
|
1 |
C |
p. 401-406
6 p.
|
artikel
|
| 38 |
Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population
|
Tabbouche, Omar
|
|
2014
|
1 |
C |
p. 273-279
7 p.
|
artikel
|
| 39 |
Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome
|
Patel, Pravin
|
|
2014
|
1 |
C |
p. 184-196
13 p.
|
artikel
|
| 40 |
Influence of Npc1 genotype on the toxicity of hydroxypropyl-β-cyclodextrin, a potentially therapeutic agent, in Niemann–Pick Type C disease models
|
Tanaka, Yuta
|
|
2014
|
1 |
C |
p. 19-30
12 p.
|
artikel
|
| 41 |
Late onset Leigh syndrome mimicking central nervous system vasculitis
|
Prasun, Pankaj
|
|
2014
|
1 |
C |
p. 280-282
3 p.
|
artikel
|
| 42 |
Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA
|
Chinen, Yasutsugu
|
|
2014
|
1 |
C |
p. 31-41
11 p.
|
artikel
|
| 43 |
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect
|
Mercimek-Mahmutoglu, Saadet
|
|
2014
|
1 |
C |
p. 124-128
5 p.
|
artikel
|
| 44 |
Lysinuric protein intolerance presenting with multiple fractures
|
Posey, Jennifer E.
|
|
2014
|
1 |
C |
p. 176-183
8 p.
|
artikel
|
| 45 |
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia
|
Hayasaka, Kiyoshi
|
|
2014
|
1 |
C |
p. 42-50
9 p.
|
artikel
|
| 46 |
Metyrapone, an inhibitor of cytochrome oxidases, does not affect viability in a neuroblastoma cell model of bilirubin toxicity
|
Naguib Leerberg, Maria N.
|
|
2014
|
1 |
C |
p. 197-202
6 p.
|
artikel
|
| 47 |
Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression
|
Morales, Carlos R.
|
|
2014
|
1 |
C |
p. 407-411
5 p.
|
artikel
|
| 48 |
Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25years of follow-up
|
Scarpelli, Mauro
|
|
2014
|
1 |
C |
p. 269-272
4 p.
|
artikel
|
| 49 |
Neonatal pulmonary hypertension in mitochondrial disorders due to TMEM70 mutations
|
Finsterer, Josef
|
|
2014
|
1 |
C |
p. 235-236
2 p.
|
artikel
|
| 50 |
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte
|
Quinonez, Shane C.
|
|
2014
|
1 |
C |
p. 345-349
5 p.
|
artikel
|
| 51 |
Non-depleting anti-CD4 monoclonal antibody induces immune tolerance to ERT in a murine model of Pompe disease
|
Sun, Baodong
|
|
2014
|
1 |
C |
p. 446-450
5 p.
|
artikel
|
| 52 |
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines
|
Greene, Christopher N.
|
|
2014
|
1 |
C |
p. 312-323
12 p.
|
artikel
|
| 53 |
Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
|
Kazamel, Mohamed
|
|
2014
|
1 |
C |
p. 443-445
3 p.
|
artikel
|
| 54 |
One-carbon cycle alterations induced by Dyrk1a dosage
|
Delabar, Jean-Maurice
|
|
2014
|
1 |
C |
p. 487-492
6 p.
|
artikel
|
| 55 |
Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey
|
Gokmen Ozel, H.
|
|
2014
|
1 |
C |
p. 483-486
4 p.
|
artikel
|
| 56 |
Pain in adult patients with Pompe disease
|
Karabul, N.
|
|
2014
|
1 |
C |
p. 139-140
2 p.
|
artikel
|
| 57 |
Parental knowledge reduces long term anxiety induced by false-positive test results after newborn screening for cystic fibrosis
|
Vernooij-van Langen, A.M.M.
|
|
2014
|
1 |
C |
p. 334-344
11 p.
|
artikel
|
| 58 |
Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy
|
Suzuki, Akira
|
|
2014
|
1 |
C |
p. 249-253
5 p.
|
artikel
|
| 59 |
Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease
|
Tsukimura, Takahiro
|
|
2014
|
1 |
C |
p. 288-298
11 p.
|
artikel
|
| 60 |
Promoting psychological well-being in women with phenylketonuria: Pregnancy-related stresses, coping strategies and supports
|
Roberts, Rachel M.
|
|
2014
|
1 |
C |
p. 148-157
10 p.
|
artikel
|
| 61 |
Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency
|
Rasmussen, Jan
|
|
2014
|
1 |
C |
p. 241-248
8 p.
|
artikel
|
| 62 |
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases
|
Jilkina, O.
|
|
2014
|
1 |
C |
p. 324-333
10 p.
|
artikel
|
| 63 |
Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations
|
Prasun, Pankaj
|
|
2014
|
1 |
C |
p. 412-413
2 p.
|
artikel
|
| 64 |
Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis — A cross sectional survey
|
Danckworth, F.
|
|
2014
|
1 |
C |
p. 85-97
13 p.
|
artikel
|
| 65 |
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene
|
Ardon, O.
|
|
2014
|
1 |
C |
p. 71-84
14 p.
|
artikel
|
| 66 |
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
|
Deeb, Kristin K.
|
|
2014
|
1 |
C |
p. 362-367
6 p.
|
artikel
|
| 67 |
The retarded hair growth (rhg) mutation in mice is an allele of ornithine aminotransferase (Oat)
|
Bisaillon, Jason J.
|
|
2014
|
1 |
C |
p. 378-390
13 p.
|
artikel
|
| 68 |
The value of neuroimaging in the assessment and follow-up of early-onset methylmalonic aciduria and homocystinuria
|
de Benedictis, Fernando M.
|
|
2014
|
1 |
C |
p. 60-
1 p.
|
artikel
|
| 69 |
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies
|
Fraser, Jamie L.
|
|
2014
|
1 |
C |
p. 66-70
5 p.
|
artikel
|
| 70 |
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria
|
Lam, Christina
|
|
2014
|
1 |
C |
p. 114-123
10 p.
|
artikel
|
| 71 |
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease
|
Sremba, L.J.
|
|
2014
|
1 |
C |
p. 368-372
5 p.
|
artikel
|
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