| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy
|
Hara, Yasuhiro
|
|
|
34 |
C |
p.
|
artikel
|
| 2 |
Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]
|
Russo, S. Nicholas
|
|
|
34 |
C |
p.
|
artikel
|
| 3 |
Corrigendum to “ Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry” [32/100888 (2022) page 1–4].
|
Civallero, Gabriel
|
|
|
34 |
C |
p.
|
artikel
|
| 4 |
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease
|
Taguchi, Atsumi
|
|
|
34 |
C |
p.
|
artikel
|
| 5 |
Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan
|
Pan, Yu-Wen
|
|
|
34 |
C |
p.
|
artikel
|
| 6 |
Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome
|
Nakamura, Sachie
|
|
|
34 |
C |
p.
|
artikel
|
| 7 |
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria
|
Ma, Christopher D.
|
|
|
34 |
C |
p.
|
artikel
|
| 8 |
Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test
|
Turki, Abrar
|
|
|
34 |
C |
p.
|
artikel
|
| 9 |
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study
|
Chapman, Kimberly A.
|
|
|
34 |
C |
p.
|
artikel
|
| 10 |
Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction and prevention of neurologic deficits in a mouse model of Hunter syndrome
|
Laoharawee, Kanut
|
|
|
34 |
C |
p.
|
artikel
|
| 11 |
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature
|
Huynh, Minh-Tuan
|
|
|
34 |
C |
p.
|
artikel
|
| 12 |
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease
|
Watanabe, Chika
|
|
|
34 |
C |
p.
|
artikel
|
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