| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A common variant near the PRL gene is associated with increased adiposity in males
|
Nilsson, Louise
|
|
2011
|
102 |
1 |
p. 78-81
4 p.
|
article
|
| 2 |
A heuristic model for paradoxical effects of biotin starvation on carbon metabolism genes in the presence of abundant glucose
|
Velazquez-Arellano, Antonio
|
|
2011
|
102 |
1 |
p. 69-77
9 p.
|
article
|
| 3 |
Androgen receptor htSNPs in relation to androgen levels and OC use in young women from high-risk breast cancer families
|
Hietala, Maria
|
|
2011
|
102 |
1 |
p. 82-90
9 p.
|
article
|
| 4 |
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)
|
Clarke, Joe T.R.
|
|
2011
|
102 |
1 |
p. 6-12
7 p.
|
article
|
| 5 |
Body composition analysis in late-onset Pompe disease
|
Papadimas, G.K.
|
|
2011
|
102 |
1 |
p. 41-43
3 p.
|
article
|
| 6 |
Editorial Board
|
|
|
2011
|
102 |
1 |
p. IFC-
1 p.
|
article
|
| 7 |
Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI
|
Auray-Blais, Christiane
|
|
2011
|
102 |
1 |
p. 49-56
8 p.
|
article
|
| 8 |
Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease
|
Chien, Yin-Hsiu
|
|
2011
|
102 |
1 |
p. 57-60
4 p.
|
article
|
| 9 |
Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT)
|
Linthorst, Gabor E.
|
|
2011
|
102 |
1 |
p. 99-102
4 p.
|
article
|
| 10 |
Functional analysis of genetic variations in the 5′-flanking region of the human MDR1 gene
|
Saeki, Mayumi
|
|
2011
|
102 |
1 |
p. 91-98
8 p.
|
article
|
| 11 |
Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots
|
Oemardien, L.F.
|
|
2011
|
102 |
1 |
p. 44-48
5 p.
|
article
|
| 12 |
Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma
|
Gao, Yong
|
|
2011
|
102 |
1 |
p. 107-109
3 p.
|
article
|
| 13 |
Membrane transport of sepiapterin and dihydrobiopterin by equilibrative nucleoside transporters: A plausible gateway for the salvage pathway of Tetrahydrobiopterin biosynthesis
|
Ohashi, Akiko
|
|
2011
|
102 |
1 |
p. 18-28
11 p.
|
article
|
| 14 |
Molecular characterization of CPS1 deletions by array CGH
|
Wang, Jing
|
|
2011
|
102 |
1 |
p. 103-106
4 p.
|
article
|
| 15 |
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency
|
Vliet, Lydia K.
|
|
2011
|
102 |
1 |
p. 61-68
8 p.
|
article
|
| 16 |
Mutation spectrum of phenylketonuria in Iranian population
|
Zare-Karizi, Sh.
|
|
2011
|
102 |
1 |
p. 29-32
4 p.
|
article
|
| 17 |
Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages
|
Vugteveen, Inge
|
|
2011
|
102 |
1 |
p. 13-17
5 p.
|
article
|
| 18 |
SIMD commentary on FDA oversight of laboratory-developed testing
|
Vladutiu, Georgirene D.
|
|
2011
|
102 |
1 |
p. 1-3
3 p.
|
article
|
| 19 |
Table of Contents
|
|
|
2011
|
102 |
1 |
p. iii-iv
nvt p.
|
article
|
| 20 |
The Fabrazyme shortage—A call to action for metabolic physicians
|
Sirrs, Sandra
|
|
2011
|
102 |
1 |
p. 4-5
2 p.
|
article
|
| 21 |
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies
|
Li, Yijun
|
|
2011
|
102 |
1 |
p. 33-40
8 p.
|
article
|
Journal description