| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation
|
Di Rocco, Maja
|
|
2006
|
89 |
4 |
p. 395-397
3 p.
|
artikel
|
| 2 |
Adenovirus mediated expression of human paraoxonase 2 protects against the development of atherosclerosis in apolipoprotein E-deficient mice
|
Ng, Carey J.
|
|
2006
|
89 |
4 |
p. 368-373
6 p.
|
artikel
|
| 3 |
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency
|
Korman, Stanley H.
|
|
2006
|
89 |
4 |
p. 332-338
7 p.
|
artikel
|
| 4 |
A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation
|
Boles, Richard G.
|
|
2006
|
89 |
4 |
p. 390-391
2 p.
|
artikel
|
| 5 |
Author Index
|
|
|
2006
|
89 |
4 |
p. 404-405
2 p.
|
artikel
|
| 6 |
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: Study of a spectrum of mutations
|
Coulter-Mackie, M.B.
|
|
2006
|
89 |
4 |
p. 349-359
11 p.
|
artikel
|
| 7 |
Corrigendum to “Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)” [Mol. Genet. Metab. 77 (2002) 252–256]
|
Darvish, D.
|
|
2006
|
89 |
4 |
p. 403-
1 p.
|
artikel
|
| 8 |
Cover 2 / Ed. Board
|
|
|
2006
|
89 |
4 |
p. CO2-
1 p.
|
artikel
|
| 9 |
Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement
|
Kozak, Libor
|
|
2006
|
89 |
4 |
p. 300-309
10 p.
|
artikel
|
| 10 |
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency
|
Isackson, Paul J.
|
|
2006
|
89 |
4 |
p. 323-331
9 p.
|
artikel
|
| 11 |
Inborn errors of isoleucine degradation: A review
|
Korman, Stanley H.
|
|
2006
|
89 |
4 |
p. 289-299
11 p.
|
artikel
|
| 12 |
LEP 3′HVR is associated with obesity and leptin levels in Brazilian individuals
|
Hinuy, Hamilton M.
|
|
2006
|
89 |
4 |
p. 374-380
7 p.
|
artikel
|
| 13 |
Lysosomal exocytosis is impaired in mucolipidosis type IV
|
LaPlante, Janice M.
|
|
2006
|
89 |
4 |
p. 339-348
10 p.
|
artikel
|
| 14 |
Moderate coffee and alcohol consumption improves the estrogen metabolite profile in adjuvant treated breast cancer patients: A pilot study comparing pre- and post-operative levels
|
Klug, T.L.
|
|
2006
|
89 |
4 |
p. 381-389
9 p.
|
artikel
|
| 15 |
Molecular analysis in two β-mannosidosis patients: Description of a new adult case
|
Gort, Laura
|
|
2006
|
89 |
4 |
p. 398-400
3 p.
|
artikel
|
| 16 |
Of mice and men: Galactosemia
|
Segal, Stanton
|
|
2006
|
89 |
4 |
p. 401-402
2 p.
|
artikel
|
| 17 |
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
|
Almeida, L.S.
|
|
2006
|
89 |
4 |
p. 392-394
3 p.
|
artikel
|
| 18 |
Table of Contents
|
|
|
2006
|
89 |
4 |
p. i-ii
nvt p.
|
artikel
|
| 19 |
The endocrine system in treated patients with classical galactosemia
|
Rubio-Gozalbo, M. Estela
|
|
2006
|
89 |
4 |
p. 316-322
7 p.
|
artikel
|
| 20 |
Tyrosinemia type I treated by NTBC: How does AFP predict liver cancer?
|
Koelink, C.J.L.
|
|
2006
|
89 |
4 |
p. 310-315
6 p.
|
artikel
|
| 21 |
Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: Studies in 6018 whites
|
Jensen, Dorit P.
|
|
2006
|
89 |
4 |
p. 360-367
8 p.
|
artikel
|
| 22 |
Volume Contents
|
|
|
2006
|
89 |
4 |
p. III-VII
nvt p.
|
artikel
|
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