| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature
|
Tahata, Shawn
|
|
|
128 |
4 |
p. 409-414
|
artikel
|
| 2 |
Cover 2 / Ed. Board
|
|
|
|
128 |
4 |
p. IFC
|
artikel
|
| 3 |
Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans
|
Brezavar, Daniel
|
|
|
128 |
4 |
p. 463-469
|
artikel
|
| 4 |
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review
|
Pillai, Nishitha R.
|
|
|
128 |
4 |
p. 431-443
|
artikel
|
| 5 |
Metabolites downstream of predicted loss-of-function variants inform relationship to disease
|
Li, Mengbo
|
|
|
128 |
4 |
p. 476-482
|
artikel
|
| 6 |
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities
|
Peralta, Susana
|
|
|
128 |
4 |
p. 452-462
|
artikel
|
| 7 |
Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain
|
Berguig, Geoffrey Y.
|
|
|
128 |
4 |
p. 422-430
|
artikel
|
| 8 |
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study
|
Rajabi, Farrah
|
|
|
128 |
4 |
p. 415-421
|
artikel
|
| 9 |
Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?
|
Goldstein, Orly
|
|
|
128 |
4 |
p. 470-475
|
artikel
|
| 10 |
Table of Contents
|
|
|
|
128 |
4 |
p. iii
|
artikel
|
| 11 |
Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1 −/− mice, a model of succinic semialdehyde dehydrogenase deficiency
|
Brown, Madalyn
|
|
|
128 |
4 |
p. 397-408
|
artikel
|
| 12 |
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria
|
Wongkittichote, Parith
|
|
|
128 |
4 |
p. 444-451
|
artikel
|
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