| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency
|
Purevsuren, Jamiyan
|
|
2009
|
98 |
4 |
p. 372-377
6 p.
|
artikel
|
| 2 |
Cover 2 / Ed. Board
|
|
|
2009
|
98 |
4 |
p. IFC-
1 p.
|
artikel
|
| 3 |
Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa1H /+ mouse
|
Cunningham, David
|
|
2009
|
98 |
4 |
p. 356-366
11 p.
|
artikel
|
| 4 |
Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs—A proof of principle study
|
Hemsley, Kim M.
|
|
2009
|
98 |
4 |
p. 383-392
10 p.
|
artikel
|
| 5 |
Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis
|
Mew, Nicholas Ah
|
|
2009
|
98 |
4 |
p. 325-330
6 p.
|
artikel
|
| 6 |
Evidence for the Thr79Met polymorphism of the ileal fatty acid binding protein (FABP6) to be associated with type 2 diabetes in obese individuals
|
Fisher, Eva
|
|
2009
|
98 |
4 |
p. 400-405
6 p.
|
artikel
|
| 7 |
High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria
|
Profitlich, Laurie E.
|
|
2009
|
98 |
4 |
p. 344-348
5 p.
|
artikel
|
| 8 |
Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts
|
Cameron, Jessie M.
|
|
2009
|
98 |
4 |
p. 378-382
5 p.
|
artikel
|
| 9 |
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts
|
Otomo, Takanobu
|
|
2009
|
98 |
4 |
p. 393-399
7 p.
|
artikel
|
| 10 |
Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria
|
Froese, D.S.
|
|
2009
|
98 |
4 |
p. 338-343
6 p.
|
artikel
|
| 11 |
MR spectroscopy and diffusion tensor imaging of the brain in Sjögren–Larsson syndrome
|
Sijens, P.E.
|
|
2009
|
98 |
4 |
p. 367-371
5 p.
|
artikel
|
| 12 |
Probing pyruvate metabolism in normal and mutant fibroblast cell lines using 13C-labeled mass isotopomer analysis and mass spectrometry
|
Riazi, Roya
|
|
2009
|
98 |
4 |
p. 349-355
7 p.
|
artikel
|
| 13 |
Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes
|
MacLeod, Erin L.
|
|
2009
|
98 |
4 |
p. 331-337
7 p.
|
artikel
|
| 14 |
Table of Contents
|
|
|
2009
|
98 |
4 |
p. iii-iv
nvt p.
|
artikel
|
| 15 |
Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II
|
Wang, Raymond Y.
|
|
2009
|
98 |
4 |
p. 406-411
6 p.
|
artikel
|
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