| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria
|
Rohr, Frances
|
|
2015
|
114 |
1 |
p. 25-28
4 p.
|
artikel
|
| 2 |
Adult liver disorders caused by inborn errors of metabolism: Review and update
|
Chanprasert, Sirisak
|
|
2015
|
114 |
1 |
p. 1-10
10 p.
|
artikel
|
| 3 |
BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations
|
van Vliet, Danique
|
|
2015
|
114 |
1 |
p. 29-33
5 p.
|
artikel
|
| 4 |
Cerebral lipid accumulation in Chanarin–Dorfman Syndrome
|
Huigen, Marleen C.D.G.
|
|
2015
|
114 |
1 |
p. 51-54
4 p.
|
artikel
|
| 5 |
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency
|
Ortez, C.
|
|
2015
|
114 |
1 |
p. 34-40
7 p.
|
artikel
|
| 6 |
Clinical severity in Lesch–Nyhan disease: The role of residual enzyme and compensatory pathways
|
Fu, Rong
|
|
2015
|
114 |
1 |
p. 55-61
7 p.
|
artikel
|
| 7 |
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome
|
Charrow, Joel
|
|
2015
|
114 |
1 |
p. 11-18
8 p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
2015
|
114 |
1 |
p. IFC-
1 p.
|
artikel
|
| 9 |
Effects of sodium benzoate, a widely used food preservative, on glucose homeostasis and metabolic profiles in humans
|
Lennerz, Belinda S.
|
|
2015
|
114 |
1 |
p. 73-79
7 p.
|
artikel
|
| 10 |
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency
|
Lin, Su Ru
|
|
2015
|
114 |
1 |
p. 41-45
5 p.
|
artikel
|
| 11 |
In vitro functional correction of Hermansky–Pudlak Syndrome type-1 by lentiviral-mediated gene transfer
|
Ikawa, Yasuhiro
|
|
2015
|
114 |
1 |
p. 62-65
4 p.
|
artikel
|
| 12 |
Mathematical modeling of the insulin signal transduction pathway for prediction of insulin sensitivity from expression data
|
Ho, Clark K.
|
|
2015
|
114 |
1 |
p. 66-72
7 p.
|
artikel
|
| 13 |
Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria
|
Hood, Anna
|
|
2015
|
114 |
1 |
p. 19-24
6 p.
|
artikel
|
| 14 |
Reviewer Acknowledgements
|
|
|
2015
|
114 |
1 |
p. 80-81
2 p.
|
artikel
|
| 15 |
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy
|
Turgeon, Coleman T.
|
|
2015
|
114 |
1 |
p. 46-50
5 p.
|
artikel
|
| 16 |
Table of Contents
|
|
|
2015
|
114 |
1 |
p. iii-iv
nvt p.
|
artikel
|
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