| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
|
Arnold, Georgianne L.
|
|
2009
|
96 |
3 |
p. 85-90
6 p.
|
artikel
|
| 2 |
Age-related efficacy with an AAV vector in Fabry disease mice
|
Koeberl, Dwight D.
|
|
2009
|
96 |
3 |
p. 83-84
2 p.
|
artikel
|
| 3 |
A haplotype of the CYP4F2 gene associated with myocardial infarction in Japanese men
|
Fu, Zhenyan
|
|
2009
|
96 |
3 |
p. 145-147
3 p.
|
artikel
|
| 4 |
Commentary on a delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al.
|
Marsden, Deborah Louise
|
|
2009
|
96 |
3 |
p. 81-82
2 p.
|
artikel
|
| 5 |
Cover 2 / Ed. Board
|
|
|
2009
|
96 |
3 |
p. IFC-
1 p.
|
artikel
|
| 6 |
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH
|
Shchelochkov, Oleg A.
|
|
2009
|
96 |
3 |
p. 97-105
9 p.
|
artikel
|
| 7 |
In obese and non-obese adults, the cis-regulatory rs361072 promoter variant of PIK3CB is associated with insulin resistance not with type 2 diabetes
|
Clément, Karine
|
|
2009
|
96 |
3 |
p. 129-132
4 p.
|
artikel
|
| 8 |
Long-term inhibition of glycosphingolipid accumulation in Fabry model mice by a single systemic injection of AAV1 vector in the neonatal period
|
Ogawa, Koichi
|
|
2009
|
96 |
3 |
p. 91-96
6 p.
|
artikel
|
| 9 |
New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression
|
Mayer, Fabiana Quoos
|
|
2009
|
96 |
3 |
p. 148-
1 p.
|
artikel
|
| 10 |
Patients with Gaucher disease living in England show a high prevalence of vitamin D insufficiency with correlation to osteodensitometry
|
Mikosch, P.
|
|
2009
|
96 |
3 |
p. 113-120
8 p.
|
artikel
|
| 11 |
Retained features of embryonic metabolism in the adult MRL mouse
|
Naviaux, Robert K.
|
|
2009
|
96 |
3 |
p. 133-144
12 p.
|
artikel
|
| 12 |
Reviewer Acknowledgment
|
|
|
2009
|
96 |
3 |
p. 149-150
2 p.
|
artikel
|
| 13 |
Table of Contents
|
|
|
2009
|
96 |
3 |
p. iii-iv
nvt p.
|
artikel
|
| 14 |
Toxicity of peroxisomal C27-bile acid intermediates
|
Ferdinandusse, Sacha
|
|
2009
|
96 |
3 |
p. 121-128
8 p.
|
artikel
|
| 15 |
Transcriptomic and network component analysis of glycerol kinase in skeletal muscle using a mouse model of glycerol kinase deficiency
|
Rahib, Lola
|
|
2009
|
96 |
3 |
p. 106-112
7 p.
|
artikel
|
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