| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients
|
Schadewaldt, Peter
|
|
2004
|
81 |
1 |
p. 31-44
14 p.
|
artikel
|
| 2 |
A naturally occurring −263G/C variant of the human AA-NAT gene and overnight melatonin production
|
Ying, Grace Wang
|
|
2004
|
81 |
1 |
p. 65-69
5 p.
|
artikel
|
| 3 |
α-Endosulfine, a positional and functional candidate gene for type 2 diabetes: molecular screening, association studies, and role in reduced insulin secretion
|
Wang, Hua
|
|
2004
|
81 |
1 |
p. 9-15
7 p.
|
artikel
|
| 4 |
Glucocerebrosidase mutations in subjects with parkinsonism
|
Lwin, Alicia
|
|
2004
|
81 |
1 |
p. 70-73
4 p.
|
artikel
|
| 5 |
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients
|
Parkinson, Emma J
|
|
2004
|
81 |
1 |
p. 58-64
7 p.
|
artikel
|
| 6 |
IFC - Ed. Board
|
|
|
2004
|
81 |
1 |
p. IFC-
1 p.
|
artikel
|
| 7 |
New approaches to treat PKU: How far are we?
|
Blau, Nenad
|
|
2004
|
81 |
1 |
p. 1-2
2 p.
|
artikel
|
| 8 |
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration
|
Fiege, Betina
|
|
2004
|
81 |
1 |
p. 45-51
7 p.
|
artikel
|
| 9 |
State-of-the-art 2003 on PKU gene therapy
|
Ding, Zhaobing
|
|
2004
|
81 |
1 |
p. 3-8
6 p.
|
artikel
|
| 10 |
Table of Contents
|
|
|
2004
|
81 |
1 |
p. i-
1 p.
|
artikel
|
| 11 |
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria
|
Harding, Cary O
|
|
2004
|
81 |
1 |
p. 52-57
6 p.
|
artikel
|
| 12 |
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency
|
Berry, Gerard T.
|
|
2004
|
81 |
1 |
p. 22-30
9 p.
|
artikel
|
| 13 |
The transcribed endosulfine α gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians
|
Thameem, Farook
|
|
2004
|
81 |
1 |
p. 16-21
6 p.
|
artikel
|
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