| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein
|
Ersoy Tunalı, Nagehan
|
|
2014
|
112 |
1 |
p. 25-29
5 p.
|
artikel
|
| 2 |
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency
|
Pindolia, Kirit
|
|
2014
|
112 |
1 |
p. 49-56
8 p.
|
artikel
|
| 3 |
Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice
|
Wang, Wei
|
|
2014
|
112 |
1 |
p. 30-39
10 p.
|
artikel
|
| 4 |
Concomitant alpha7 and beta2 nicotinic AChR subunit deficiency leads to impaired energy homeostasis and increased physical activity in mice
|
Somm, Emmanuel
|
|
2014
|
112 |
1 |
p. 64-72
9 p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
2014
|
112 |
1 |
p. IFC-
1 p.
|
artikel
|
| 6 |
Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease—a long-term follow-up
|
Andreassen, Christer Swan
|
|
2014
|
112 |
1 |
p. 40-43
4 p.
|
artikel
|
| 7 |
Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes
|
Berry, Susan A.
|
|
2014
|
112 |
1 |
p. 17-24
8 p.
|
artikel
|
| 8 |
Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry
|
Grange, Dorothy K.
|
|
2014
|
112 |
1 |
p. 9-16
8 p.
|
artikel
|
| 9 |
Table of Contents
|
|
|
2014
|
112 |
1 |
p. v-vi
nvt p.
|
artikel
|
| 10 |
Taliglucerase alfa: An enzyme replacement therapy using plant cell expression technology
|
Grabowski, Gregory A.
|
|
2014
|
112 |
1 |
p. 1-8
8 p.
|
artikel
|
| 11 |
The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-α-glucosidase in Pompe's iPSCs
|
Higuchi, Takashi
|
|
2014
|
112 |
1 |
p. 44-48
5 p.
|
artikel
|
| 12 |
Transcriptional profiling of the human fibrillin/LTBP gene family, key regulators of mesenchymal cell functions
|
Davis, Margaret R.
|
|
2014
|
112 |
1 |
p. 73-83
11 p.
|
artikel
|
| 13 |
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts
|
Sitarz, Kamil S.
|
|
2014
|
112 |
1 |
p. 57-63
7 p.
|
artikel
|
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