nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase
|
Senkevitch, Emilee |
|
2012 |
106 |
2 |
p. 160-168 9 p. |
artikel |
2 |
Contents List
|
|
|
2012 |
106 |
2 |
p. iii-iv nvt p. |
artikel |
3 |
Corrigendum to abstract “Very mild clinical manifestation of Hunter syndrome due to a novel IDS mutation” [Molecular Genetics and Metabolism 105/2 (2012) S15–S69]
|
Boyadjiev, Simeon |
|
2012 |
106 |
2 |
p. 255- 1 p. |
artikel |
4 |
Decreased bone mineralization in children with Noonan syndrome: Another consequence of dysregulated RAS MAPKinase pathway?
|
Choudhry, Kiran S. |
|
2012 |
106 |
2 |
p. 237-240 4 p. |
artikel |
5 |
DNA damage in an animal model of maple syrup urine disease
|
Scaini, Giselli |
|
2012 |
106 |
2 |
p. 169-174 6 p. |
artikel |
6 |
Editorial Board
|
|
|
2012 |
106 |
2 |
p. IFC- 1 p. |
artikel |
7 |
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene
|
Groselj, Urh |
|
2012 |
106 |
2 |
p. 142-148 7 p. |
artikel |
8 |
Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?
|
Mercimek-Mahmutoglu, Saadet |
|
2012 |
106 |
2 |
p. 251-252 2 p. |
artikel |
9 |
Mapping the T helper cell response to acid α-glucosidase in Pompe mice
|
Nayak, Sushrusha |
|
2012 |
106 |
2 |
p. 189-195 7 p. |
artikel |
10 |
MCAD deficiency in Denmark
|
Andresen, Brage Storstein |
|
2012 |
106 |
2 |
p. 175-188 14 p. |
artikel |
11 |
Metabolic insight into mechanisms of high-altitude adaptation in Tibetans
|
Ge, Ri-Li |
|
2012 |
106 |
2 |
p. 244-247 4 p. |
artikel |
12 |
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain
|
Pajares, Sonia |
|
2012 |
106 |
2 |
p. 196-201 6 p. |
artikel |
13 |
Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients
|
Srivastava, Kshitij |
|
2012 |
106 |
2 |
p. 241-243 3 p. |
artikel |
14 |
Rhodamine B and 2-acetamido-1,3,6-tri-O-acetyl-4-deoxy-4-fluoro-d-glucopyranose (F-GlcNAc) inhibit chondroitin/dermatan and keratan sulphate synthesis by different mechanisms in bovine chondrocytes
|
Derrick-Roberts, Ainslie L.K. |
|
2012 |
106 |
2 |
p. 214-220 7 p. |
artikel |
15 |
Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus
|
Jadavji, Nafisa M. |
|
2012 |
106 |
2 |
p. 149-159 11 p. |
artikel |
16 |
Skeletal response to lentiviral mediated gene therapy in a mouse model of MPS VII
|
Macsai, Carmen E. |
|
2012 |
106 |
2 |
p. 202-213 12 p. |
artikel |
17 |
Small fiber neuropathy in Fabry disease
|
Biegstraaten, Marieke |
|
2012 |
106 |
2 |
p. 135-141 7 p. |
artikel |
18 |
Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders
|
Wang, Jing |
|
2012 |
106 |
2 |
p. 221-230 10 p. |
artikel |
19 |
The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy
|
Rockenbach, Francieli J. |
|
2012 |
106 |
2 |
p. 231-236 6 p. |
artikel |
20 |
To the knowledge of the 20GYGFG24 sequence stretch of type-1 VDAC: To understand why BCl-XL B4 domain peptides keep HeLa cells closed in hypotonic surroundings
|
Thinnes, Friedrich P. |
|
2012 |
106 |
2 |
p. 253-254 2 p. |
artikel |
21 |
30-year follow-up of a patient with classic citrullinemia
|
Brunetti-Pierri, Nicola |
|
2012 |
106 |
2 |
p. 248-250 3 p. |
artikel |