| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Announcement
|
|
|
2008
|
95 |
3 |
p. v-
1 p.
|
artikel
|
| 2 |
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients
|
Chatzikyriakidou, Anthoula
|
|
2008
|
95 |
3 |
p. 192-193
2 p.
|
artikel
|
| 3 |
Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A
|
Sasaki, Akihiko
|
|
2008
|
95 |
3 |
p. 182-187
6 p.
|
artikel
|
| 4 |
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models
|
Jones, Iwan
|
|
2008
|
95 |
3 |
p. 152-162
11 p.
|
artikel
|
| 5 |
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R
|
Tang, Jingrong
|
|
2008
|
95 |
3 |
p. 174-181
8 p.
|
artikel
|
| 6 |
Cover 2 / Ed. Board
|
|
|
2008
|
95 |
3 |
p. IFC-
1 p.
|
artikel
|
| 7 |
Genetic variation may influence obesity only under conditions of diet: Analysis of three candidate genes
|
Aberle, Jens
|
|
2008
|
95 |
3 |
p. 188-191
4 p.
|
artikel
|
| 8 |
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
|
Shen, Jin-Song
|
|
2008
|
95 |
3 |
p. 163-168
6 p.
|
artikel
|
| 9 |
In vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber disease
|
Ramsubir, Shobha
|
|
2008
|
95 |
3 |
p. 133-141
9 p.
|
artikel
|
| 10 |
Lipolysis and the integrated physiology of lipid energy metabolism
|
Wang, Shupei
|
|
2008
|
95 |
3 |
p. 117-126
10 p.
|
artikel
|
| 11 |
Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency
|
Saada, Ann
|
|
2008
|
95 |
3 |
p. 169-173
5 p.
|
artikel
|
| 12 |
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy
|
Herati, Ramin Sedaghat
|
|
2008
|
95 |
3 |
p. 142-151
10 p.
|
artikel
|
| 13 |
Table of Contents
|
|
|
2008
|
95 |
3 |
p. iii-iv
nvt p.
|
artikel
|
| 14 |
Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations
|
Verbeek, M.M.
|
|
2008
|
95 |
3 |
p. 127-132
6 p.
|
artikel
|
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