| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alzheimer disease controls cancer — Concerning the apoptogenic interaction of cell membrane-standing type-1 VDAC and amyloid peptides via GxxxG motifs
|
Thinnes, Friedrich P.
|
|
2012
|
106 |
4 |
p. 502-503
2 p.
|
artikel
|
| 2 |
Analysis of gene mutations in Chinese patients with maple syrup urine disease
|
Yang, Nan
|
|
2012
|
106 |
4 |
p. 412-418
7 p.
|
artikel
|
| 3 |
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization
|
Fermo, Elisa
|
|
2012
|
106 |
4 |
p. 455-461
7 p.
|
artikel
|
| 4 |
Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature
|
Hobson-Webb, Lisa D.
|
|
2012
|
106 |
4 |
p. 462-469
8 p.
|
artikel
|
| 5 |
Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility
|
Clarke, Lorne A.
|
|
2012
|
106 |
4 |
p. 395-402
8 p.
|
artikel
|
| 6 |
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia
|
Vatanavicharn, Nithiwat
|
|
2012
|
106 |
4 |
p. 424-429
6 p.
|
artikel
|
| 7 |
Contents List
|
|
|
2012
|
106 |
4 |
p. iii-iv
nvt p.
|
artikel
|
| 8 |
Corrigendum to “Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form” [Molecular Genetics and Metabolism 94/2 (2008) 234–239]
|
Navarro-Sastre, Aleix
|
|
2012
|
106 |
4 |
p. 504-
1 p.
|
artikel
|
| 9 |
Editorial Board
|
|
|
2012
|
106 |
4 |
p. IFC-
1 p.
|
artikel
|
| 10 |
Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening
|
Viau, Krista
|
|
2012
|
106 |
4 |
p. 430-438
9 p.
|
artikel
|
| 11 |
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California
|
Cowan, Tina M.
|
|
2012
|
106 |
4 |
p. 485-487
3 p.
|
artikel
|
| 12 |
Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: Comment on pathogenesis of a novel complication
|
Cabrera, Gustavo H.
|
|
2012
|
106 |
4 |
p. 470-473
4 p.
|
artikel
|
| 13 |
Lesch–Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA
|
Nguyen, Khue Vu
|
|
2012
|
106 |
4 |
p. 498-501
4 p.
|
artikel
|
| 14 |
Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: Diagnosis of mitochondrial respiratory chain disorders
|
Yamamoto, Takuma
|
|
2012
|
106 |
4 |
p. 474-477
4 p.
|
artikel
|
| 15 |
Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations
|
Dündar, Halil
|
|
2012
|
106 |
4 |
p. 419-423
5 p.
|
artikel
|
| 16 |
N- and O-linked glycosylation of total plasma glycoproteins in galactosemia
|
Liu, Ying
|
|
2012
|
106 |
4 |
p. 442-454
13 p.
|
artikel
|
| 17 |
Novel pathogenic mutations in the glucocerebrosidase locus
|
Duran, Raquel
|
|
2012
|
106 |
4 |
p. 495-497
3 p.
|
artikel
|
| 18 |
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening
|
Arnold, Georgianne L.
|
|
2012
|
106 |
4 |
p. 439-441
3 p.
|
artikel
|
| 19 |
Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
|
Coulter-Mackie, Marion B.
|
|
2012
|
106 |
4 |
p. 478-481
4 p.
|
artikel
|
| 20 |
Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD)
|
Trakadis, Y.
|
|
2012
|
106 |
4 |
p. 491-494
4 p.
|
artikel
|
| 21 |
Recurrent pancreatitis in ornithine transcarbamylase deficiency
|
Prada, Carlos E.
|
|
2012
|
106 |
4 |
p. 482-484
3 p.
|
artikel
|
| 22 |
Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I
|
Jamuar, Saumya S.
|
|
2012
|
106 |
4 |
p. 488-490
3 p.
|
artikel
|
| 23 |
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11
|
Heintz, Caroline
|
|
2012
|
106 |
4 |
p. 403-411
9 p.
|
artikel
|
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