| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation
|
Ahmed, Alia
|
|
|
20 |
C |
p.
|
artikel
|
| 2 |
Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria
|
Kieke, Michele C.
|
|
|
20 |
C |
p.
|
artikel
|
| 3 |
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy
|
Desai, Ankit K.
|
|
|
20 |
C |
p.
|
artikel
|
| 4 |
Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report
|
Soll, Dominik
|
|
|
20 |
C |
p.
|
artikel
|
| 5 |
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients
|
Herenger, Yvan
|
|
|
20 |
C |
p.
|
artikel
|
| 6 |
D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene
|
Phillips, E.
|
|
|
20 |
C |
p.
|
artikel
|
| 7 |
Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey
|
Adam, Jacqueline
|
|
|
20 |
C |
p.
|
artikel
|
| 8 |
Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1
|
Kouga, Takeshi
|
|
|
20 |
C |
p.
|
artikel
|
| 9 |
Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
|
Charkhand, Behshad
|
|
|
20 |
C |
p.
|
artikel
|
| 10 |
ERT impact on left ventricular mass in Fabry disease
|
Ortiz, Alberto
|
|
|
20 |
C |
p.
|
artikel
|
| 11 |
Fractal genetics and heterogeneous phenotypes of mitochondrial disease require appropriate logistics of managing network structures
|
Finsterer, Josef
|
|
|
20 |
C |
p.
|
artikel
|
| 12 |
Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene
|
Hossain, Mohammad Arif
|
|
|
20 |
C |
p.
|
artikel
|
| 13 |
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling
|
Ou, Li
|
|
|
20 |
C |
p.
|
artikel
|
| 14 |
Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD
|
Fischer, Tobias
|
|
|
20 |
C |
p.
|
artikel
|
| 15 |
Kidney microRNA profile in pregnant mice reveals molecular insights into kidney adaptation to pregnancy: A pilot study
|
Lee, Soohyun
|
|
|
20 |
C |
p.
|
artikel
|
| 16 |
Late-onset Pompe disease manifests in the brain
|
Finsterer, Josef
|
|
|
20 |
C |
p.
|
artikel
|
| 17 |
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey
|
Shiraishi, Hideaki
|
|
|
20 |
C |
p.
|
artikel
|
| 18 |
Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases
|
Dimitriou, Evangelia
|
|
|
20 |
C |
p.
|
artikel
|
| 19 |
Response to Gurevich and colleagues: The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts
|
Germain, Dominique P.
|
|
|
20 |
C |
p.
|
artikel
|
| 20 |
Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy
|
Beshlawy, Amal El
|
|
|
20 |
C |
p.
|
artikel
|
| 21 |
Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum
|
Chard, Marisa
|
|
|
20 |
C |
p.
|
artikel
|
| 22 |
The characterisation of pulmonary function in patients with mucopolysaccharidoses IVA: A longitudinal analysis
|
Kenth, Johnny J.
|
|
|
20 |
C |
p.
|
artikel
|
| 23 |
The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease
|
Schiffmann, Raphael
|
|
|
20 |
C |
p.
|
artikel
|
| 24 |
The mouse curly whiskers (cw) mutations are recessive alleles of hephaestin-like 1 (Hephl1)
|
Eragene, Sidney
|
|
|
20 |
C |
p.
|
artikel
|
| 25 |
Very rare condition of multiple Gaucheroma: A case report and review of the literature
|
Tseng, Szu-Yin
|
|
|
20 |
C |
p.
|
artikel
|
| 26 |
WITHDRAWN: Very rare condition of multiple Gaucheroma: A case report and review of the literature
|
Tseng, Szu-Yin
|
|
|
20 |
C |
p.
|
artikel
|
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