| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Activation of glycolysis and apoptosis in glycogen storage disease type Ia
|
Sun, Baodong
|
|
2009
|
97 |
4 |
p. 267-271
5 p.
|
article
|
| 2 |
A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient
|
Mazen, I.
|
|
2009
|
97 |
4 |
p. 305-308
4 p.
|
article
|
| 3 |
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme
|
Dardis, Andrea
|
|
2009
|
97 |
4 |
p. 309-311
3 p.
|
article
|
| 4 |
Clinical and genetic study of Japanese patients with type 3 Gaucher disease
|
Tajima, Asako
|
|
2009
|
97 |
4 |
p. 272-277
6 p.
|
article
|
| 5 |
Cover 2 / Ed. Board
|
|
|
2009
|
97 |
4 |
p. IFC-
1 p.
|
article
|
| 6 |
Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies
|
Kraus, Jan P.
|
|
2009
|
97 |
4 |
p. 250-259
10 p.
|
article
|
| 7 |
Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography–tandem mass spectrometry in healthy infants from birth to 6months
|
Barr, Caroline
|
|
2009
|
97 |
4 |
p. 278-283
6 p.
|
article
|
| 8 |
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II
|
Kaji, Shunsaku
|
|
2009
|
97 |
4 |
p. 292-296
5 p.
|
article
|
| 9 |
Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation
|
Chopra, M.
|
|
2009
|
97 |
4 |
p. 315-
1 p.
|
article
|
| 10 |
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification
|
Rosenberg, Efraim H.
|
|
2009
|
97 |
4 |
p. 312-314
3 p.
|
article
|
| 11 |
Neuroendocrine differentiation of LNCaP cells suggests: VDAC in the cell membrane is involved in the extrinsic apoptotic pathway
|
Thinnes, Friedrich P.
|
|
2009
|
97 |
4 |
p. 241-243
3 p.
|
article
|
| 12 |
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis
|
Maegawa, Gustavo H.B.
|
|
2009
|
97 |
4 |
p. 284-291
8 p.
|
article
|
| 13 |
Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins
|
Bykhovskaya, Yelena
|
|
2009
|
97 |
4 |
p. 297-304
8 p.
|
article
|
| 14 |
Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product
|
Hannibal, Luciana
|
|
2009
|
97 |
4 |
p. 260-266
7 p.
|
article
|
| 15 |
Stop codon read-through of a Methylmalonic aciduria mutation
|
Buck, Nicole E.
|
|
2009
|
97 |
4 |
p. 244-249
6 p.
|
article
|
| 16 |
Table of Contents
|
|
|
2009
|
97 |
4 |
p. iii-iv
nvt p.
|
article
|
| 17 |
The intersection of psychiatric diagnosis and inherited metabolic disease
|
|
|
2009
|
97 |
4 |
p. 239-240
2 p.
|
article
|
Journal description