| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acute nutrition management in the prevention of metabolic illness: A practical approach with glucose polymers
|
Van Hove, Johan L.K.
|
|
2009
|
97 |
1 |
p. 1-3
3 p.
|
artikel
|
| 2 |
A new perspective on the treatment of aromatic l-amino acid decarboxylase deficiency
|
Allen, George F.G.
|
|
2009
|
97 |
1 |
p. 6-14
9 p.
|
artikel
|
| 3 |
A point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency
|
Champigny, Marc J.
|
|
2009
|
97 |
1 |
p. 43-52
10 p.
|
artikel
|
| 4 |
Corrigendum to “Unclassified polysaccharidosis of the heart and skeletal muscle in siblings” [Mol. Genet. Metabol. 95 (2008) 52–58]
|
Schoser, Benedikt
|
|
2009
|
97 |
1 |
p. 94-
1 p.
|
artikel
|
| 5 |
Cover 2 / Ed. Board
|
|
|
2009
|
97 |
1 |
p. IFC-
1 p.
|
artikel
|
| 6 |
Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3)
|
Forni, Sabrina
|
|
2009
|
97 |
1 |
p. 91-
1 p.
|
artikel
|
| 7 |
Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase β-subunit deficiency
|
Bradbury, Allison M.
|
|
2009
|
97 |
1 |
p. 53-59
7 p.
|
artikel
|
| 8 |
Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain
|
Macías-Vidal, Judit
|
|
2009
|
97 |
1 |
p. 60-64
5 p.
|
artikel
|
| 9 |
Participation of asparagine 370 and glutamine 235 in the catalysis by acid β-glucosidase: The enzyme deficient in Gaucher disease
|
Liou, Benjamin
|
|
2009
|
97 |
1 |
p. 65-74
10 p.
|
artikel
|
| 10 |
Public trust and research a decade later: What have we learned since Jesse Gelsinger’s death?
|
Yarborough, Mark
|
|
2009
|
97 |
1 |
p. 4-5
2 p.
|
artikel
|
| 11 |
Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann–Pick disease
|
Ziegler, Robin J.
|
|
2009
|
97 |
1 |
p. 35-42
8 p.
|
artikel
|
| 12 |
Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells
|
Strazza, Michelina
|
|
2009
|
97 |
1 |
p. 27-34
8 p.
|
artikel
|
| 13 |
Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period
|
Nagasaka, Hironori
|
|
2009
|
97 |
1 |
p. 21-26
6 p.
|
artikel
|
| 14 |
Table of Contents
|
|
|
2009
|
97 |
1 |
p. iii-iv
nvt p.
|
artikel
|
| 15 |
The C609T variant of NQO1 is associated with carotid artery plaques in patients with type 2 diabetes
|
Han, Seung Jin
|
|
2009
|
97 |
1 |
p. 85-90
6 p.
|
artikel
|
| 16 |
The endothelial nitric oxide synthase gene and risk of diabetic nephropathy and development of cardiovascular disease in type 1 diabetes
|
Möllsten, Anna
|
|
2009
|
97 |
1 |
p. 80-84
5 p.
|
artikel
|
| 17 |
The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency
|
Lee, Yann-Jinn
|
|
2009
|
97 |
1 |
p. 75-79
5 p.
|
artikel
|
| 18 |
Transaldolase deficiency in two new patients with a relative mild phenotype
|
Tylki-Szymańska, Anna
|
|
2009
|
97 |
1 |
p. 15-17
3 p.
|
artikel
|
| 19 |
Tyrosine hydroxylase deficiency with severe clinical course
|
Zafeiriou, D.I.
|
|
2009
|
97 |
1 |
p. 18-20
3 p.
|
artikel
|
| 20 |
VDAC-cored CaCC, CF patients best friend – Finding novel therapeutics for CF
|
Thinnes, Friedrich P.
|
|
2009
|
97 |
1 |
p. 92-93
2 p.
|
artikel
|
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