| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A safety trial of high dose glyceryl triacetate for Canavan disease
|
Segel, Reeval
|
|
2011
|
103 |
3 |
p. 203-206
4 p.
|
article
|
| 2 |
Association between polymorphisms of the Nesfatin gene, NUCB2, and obesity in men
|
Zegers, Doreen
|
|
2011
|
103 |
3 |
p. 282-286
5 p.
|
article
|
| 3 |
Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene
|
Gottwald, I.
|
|
2011
|
103 |
3 |
p. 300-302
3 p.
|
article
|
| 4 |
Biodistribution and pharmacodynamics of recombinant human alpha-l-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations
|
Vite, Charles H.
|
|
2011
|
103 |
3 |
p. 268-274
7 p.
|
article
|
| 5 |
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
|
Hanchard, Neil A.
|
|
2011
|
103 |
3 |
p. 262-267
6 p.
|
article
|
| 6 |
Editorial Board
|
|
|
2011
|
103 |
3 |
p. IFC-
1 p.
|
article
|
| 7 |
Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria
|
Sanayama, Yoshitami
|
|
2011
|
103 |
3 |
p. 220-225
6 p.
|
article
|
| 8 |
Functional analysis of the 5′ flanking region of the human G6PC3 gene: Regulation of promoter activity by glucose, pyruvate, AMP kinase and the pentose phosphate pathway
|
Bennett, Kimberley Ann
|
|
2011
|
103 |
3 |
p. 254-261
8 p.
|
article
|
| 9 |
Glycerol homeostasis and metabolism in glycerol kinase carrier mice
|
Kosuga, Motomichi
|
|
2011
|
103 |
3 |
p. 297-299
3 p.
|
article
|
| 10 |
Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms
|
Chung, Pui Yan Jenny
|
|
2011
|
103 |
3 |
p. 287-292
6 p.
|
article
|
| 11 |
Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I
|
Harada, Haruhito
|
|
2011
|
103 |
3 |
p. 215-219
5 p.
|
article
|
| 12 |
Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control
|
Krabbi, K.
|
|
2011
|
103 |
3 |
p. 249-253
5 p.
|
article
|
| 13 |
Reply to Professor Lefthériotis et al.
|
Markello, Thomas C.
|
|
2011
|
103 |
3 |
p. 305-
1 p.
|
article
|
| 14 |
Response of women with Fabry disease to enzyme replacement therapy: Comparison with men, using data from FOS—the Fabry Outcome Survey
|
Hughes, Derralynn A.
|
|
2011
|
103 |
3 |
p. 207-214
8 p.
|
article
|
| 15 |
SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinoma
|
Chang, Kuei-Wen
|
|
2011
|
103 |
3 |
p. 293-296
4 p.
|
article
|
| 16 |
Table of Contents
|
|
|
2011
|
103 |
3 |
p. iii-iv
nvt p.
|
article
|
| 17 |
The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes
|
Olsson, Anders H.
|
|
2011
|
103 |
3 |
p. 275-281
7 p.
|
article
|
| 18 |
The MMACHC proteome: Hallmarks of functional cobalamin deficiency in humans
|
Hannibal, Luciana
|
|
2011
|
103 |
3 |
p. 226-239
14 p.
|
article
|
| 19 |
Trafficking and chromatin dynamics of holocarboxylase synthetase during development of Drosophila melanogaster
|
Reyes-Carmona, Sandra
|
|
2011
|
103 |
3 |
p. 240-248
9 p.
|
article
|
| 20 |
Two closely spaced nonsense mutations in the DMD gene in a Malaysian family
|
Rani, Abdul Qawee
|
|
2011
|
103 |
3 |
p. 303-304
2 p.
|
article
|
Journal description