| no |
title |
author |
magazine |
year |
volume |
issue |
page(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.
|
article
|
| 2 |
Contents List
|
|
|
2012
|
106 |
2 |
p. iii-iv
nvt p.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 5 |
DNA damage in an animal model of maple syrup urine disease
|
Scaini, Giselli
|
|
2012
|
106 |
2 |
p. 169-174
6 p.
|
article
|
| 6 |
Editorial Board
|
|
|
2012
|
106 |
2 |
p. IFC-
1 p.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 9 |
Mapping the T helper cell response to acid α-glucosidase in Pompe mice
|
Nayak, Sushrusha
|
|
2012
|
106 |
2 |
p. 189-195
7 p.
|
article
|
| 10 |
MCAD deficiency in Denmark
|
Andresen, Brage Storstein
|
|
2012
|
106 |
2 |
p. 175-188
14 p.
|
article
|
| 11 |
Metabolic insight into mechanisms of high-altitude adaptation in Tibetans
|
Ge, Ri-Li
|
|
2012
|
106 |
2 |
p. 244-247
4 p.
|
article
|
| 12 |
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain
|
Pajares, Sonia
|
|
2012
|
106 |
2 |
p. 196-201
6 p.
|
article
|
| 13 |
Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients
|
Srivastava, Kshitij
|
|
2012
|
106 |
2 |
p. 241-243
3 p.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 17 |
Small fiber neuropathy in Fabry disease
|
Biegstraaten, Marieke
|
|
2012
|
106 |
2 |
p. 135-141
7 p.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 21 |
30-year follow-up of a patient with classic citrullinemia
|
Brunetti-Pierri, Nicola
|
|
2012
|
106 |
2 |
p. 248-250
3 p.
|
article
|
Journal description