| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry
|
Van Baelen, Amber
|
|
|
37 |
C |
p.
|
artikel
|
| 2 |
An unusually mild case of biotin-thiamine-responsive basal ganglia disease
|
Lail, Gurnoor
|
|
|
37 |
C |
p.
|
artikel
|
| 3 |
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience
|
Upadia, Jariya
|
|
|
37 |
C |
p.
|
artikel
|
| 4 |
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey
|
Lau, Heather
|
|
|
37 |
C |
p.
|
artikel
|
| 5 |
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus
|
Eto, Kaoru
|
|
|
37 |
C |
p.
|
artikel
|
| 6 |
Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency”
|
Rahhal, Samar
|
|
|
37 |
C |
p.
|
artikel
|
| 7 |
Defective oligodendrocyte differentiation by hypomyelinating leukodystrophy 13 (HLD13)-associated mutation of Hikeshi
|
Miyamoto, Yuki
|
|
|
37 |
C |
p.
|
artikel
|
| 8 |
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings
|
Fino, Edoardo
|
|
|
37 |
C |
p.
|
artikel
|
| 9 |
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency
|
Rahhal, Samar
|
|
|
37 |
C |
p.
|
artikel
|
| 10 |
Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II
|
Yamazaki, Narutoshi
|
|
|
37 |
C |
p.
|
artikel
|
| 11 |
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan
|
Hattori, Yusuke
|
|
|
37 |
C |
p.
|
artikel
|
| 12 |
GBA1 variants in Brazilian Gaucher disease patients
|
Basgalupp, Suelen Porto
|
|
|
37 |
C |
p.
|
artikel
|
| 13 |
Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation
|
Ramosaj, Adhuresa
|
|
|
37 |
C |
p.
|
artikel
|
| 14 |
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
|
Seker Yilmaz, Berna
|
|
|
37 |
C |
p.
|
artikel
|
| 15 |
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations
|
Puente-Ruiz, Nuria
|
|
|
37 |
C |
p.
|
artikel
|
| 16 |
Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings
|
Kalay, Irem
|
|
|
37 |
C |
p.
|
artikel
|
| 17 |
Management of erythropoietic protoporphyria with cholestatic liver disease: A case report
|
Poli, Antoine
|
|
|
37 |
C |
p.
|
artikel
|
| 18 |
Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study
|
Viau, Krista
|
|
|
37 |
C |
p.
|
artikel
|
| 19 |
Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria
|
Fazio, Timothy Nicholas
|
|
|
37 |
C |
p.
|
artikel
|
| 20 |
Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL
|
Aoki, Eriko
|
|
|
37 |
C |
p.
|
artikel
|
| 21 |
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models
|
Tuyaa-Boustugue, Pascale
|
|
|
37 |
C |
p.
|
artikel
|
| 22 |
Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease
|
Bon, Martina
|
|
|
37 |
C |
p.
|
artikel
|
| 23 |
Schimke immuno-osseous dysplasia. A case report in Colombia
|
Orozco, Rafael Adrián Pacheco
|
|
|
37 |
C |
p.
|
artikel
|
| 24 |
The diagnostic journey for patients with late-onset GM2 Gangliosidoses
|
Lopshire, Mariah C.
|
|
|
37 |
C |
p.
|
artikel
|
| 25 |
The role of genetic testing in suspected fulminant myocarditis: A case report
|
Mistrulli, Raffaella
|
|
|
37 |
C |
p.
|
artikel
|
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