| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A neuropathological cell model derived from Niemann−Pick disease type C patient-specific iPSCs shows disruption of the p62/SQSTM1−KEAP1−NRF2 Axis and impaired formation of neuronal networks
|
Saito, Ryo
|
|
|
28 |
C |
p.
|
artikel
|
| 2 |
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1
|
Reynolds, Margaret
|
|
|
28 |
C |
p.
|
artikel
|
| 3 |
Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy
|
Yada, Yutaro
|
|
|
28 |
C |
p.
|
artikel
|
| 4 |
Case report: ‘AARS2 leukodystrophy’
|
Axelsen, Tobias Melton
|
|
|
28 |
C |
p.
|
artikel
|
| 5 |
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
|
Rocha, Júlio César
|
|
|
28 |
C |
p.
|
artikel
|
| 6 |
Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries
|
Solano, Villarreal M
|
|
|
28 |
C |
p.
|
artikel
|
| 7 |
Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?
|
Tsukimura, Takahiro
|
|
|
28 |
C |
p.
|
artikel
|
| 8 |
“Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients”
|
Cattoni, Alessandro
|
|
|
28 |
C |
p.
|
artikel
|
| 9 |
Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries
|
Elstein, Deborah
|
|
|
28 |
C |
p.
|
artikel
|
| 10 |
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
|
Bichet, Daniel G.
|
|
|
28 |
C |
p.
|
artikel
|
| 11 |
MAN1B1-CDG: Three new individuals and associated biochemical profiles
|
Sakhi, Soraya
|
|
|
28 |
C |
p.
|
artikel
|
| 12 |
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience
|
Schiergens, Katharina A.
|
|
|
28 |
C |
p.
|
artikel
|
| 13 |
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG
|
González-Domínguez, C.A.
|
|
|
28 |
C |
p.
|
artikel
|
| 14 |
Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII
|
Jones, Simon
|
|
|
28 |
C |
p.
|
artikel
|
| 15 |
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency
|
Breilyn, Margo Sheck
|
|
|
28 |
C |
p.
|
artikel
|
| 16 |
Protective effects of alpha-lipoic acid on hair cell damage in diabetic zebrafish model
|
Kim, Eunmi
|
|
|
28 |
C |
p.
|
artikel
|
| 17 |
Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function
|
Hobson-Webb, Lisa D.
|
|
|
28 |
C |
p.
|
artikel
|
| 18 |
Secondary ganglioside GM2 accumulation in mucopolysaccharidoses
|
Sandhoff, Konrad
|
|
|
28 |
C |
p.
|
artikel
|
| 19 |
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects
|
Tran, Christel
|
|
|
28 |
C |
p.
|
artikel
|
| 20 |
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series
|
Zerjav Tansek, Mojca
|
|
|
28 |
C |
p.
|
artikel
|
| 21 |
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
|
Adams, Darius
|
|
|
28 |
C |
p.
|
artikel
|
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