Molecular Genetics and Metabolism

1

Apolipoprotein E polymorphisms and type 2 diabetes: A meta-analysis of 30 studies including 5423 cases and 8197 controls

P.G. Anthopoulos, S.J. Hamodrakas, P.G. Bagos

Journal:

Year:

2010

Language:

english

File:

PDF, 1.01 MB

english, 2010

2

Caenorhabditis elegans diet significantly affects metabolic profile, mitochondrial DNA levels, lifespan and brood size

S.N. Reinke, X. Hu, B.D. Sykes, B.D. Lemire

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 767 KB

english, 2010

3

Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: Safety, pharmacokinetics and ammonia control

Brendan Lee, William Rhead, George A. Diaz, Bruce F. Scharschmidt, Asad Mian, Oleg Shchelochkov, J.F. Marier, Martin Beliveau, Joseph Mauney, Klara Dickinson, Antonia Martinez, Sharron Gargosky, Masou

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 296 KB

english, 2010

4

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

Saskia J.G. Hoefs, Ola H. Skjeldal, Richard J. Rodenburg, Bård Nedregaard, Edwin P.M. van Kaauwen, Ute Spiekerkötter, Jürgen-Christoph von Kleist-Retzow, Jan A.M. Smeitink, Leo G. Nijtmans, Lambert P.

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 481 KB

english, 2010

5

Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation

Haris Kokotas, Maria Grigoriadou, George S. Korres, Elisabeth Ferekidou, Dimitrios Kandiloros, Stavros Korres, Michael B. Petersen

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 113 KB

english, 2010

6

Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome

Jing Du, Wenjing Zhang, Lingli Guo, Zhaofeng Zhang, Huijuan Shi, Jian Wang, Huiqin Zhang, Linghan Gao, Guoyin Feng, Lin He

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 213 KB

english, 2010

7

DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human GM1-gangliosidosis fibroblasts

Katrin Fantur, Doris Hofer, Georg Schitter, Andreas J. Steiner, Bettina M. Pabst, Tanja M. Wrodnigg, Arnold E. Stütz, Eduard Paschke

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 400 KB

english, 2010

8

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

Tadayasu Togawa, Takashi Kodama, Toshihiro Suzuki, Kanako Sugawara, Takahiro Tsukimura, Toya Ohashi, Nobuyuki Ishige, Ken Suzuki, Teruo Kitagawa, Hitoshi Sakuraba

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 300 KB

english, 2010

9

A galactose-free diet enriched in soy isoflavones and antioxidants results in delayed onset of symptoms of Krabbe disease in twitcher mice

Giovanna Pannuzzo, Venera Cardile, Elvira Costantino-Ceccarini, Elisa Alvares, Domenico Mazzone, Vincenzo Perciavalle

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 325 KB

english, 2010

10

Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria

H.J. Vernon, C.B. Koerner, M.R. Johnson, A. Bergner, A. Hamosh

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 231 KB

english, 2010

11

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency

Maki Fukami, Toshiro Nagai, Hiroshi Mochizuki, Koji Muroya, Gen Yamada, Kimitaka Takitani, Tsutomu Ogata

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 204 KB

english, 2010

12

Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing

Emily H. Smith, Cheryl Thomas, David McHugh, Dimitar Gavrilov, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Dietrich Matern, W. Edward Highsmith, Devin Oglesbee

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 313 KB

english, 2010

13

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Curtis R. Coughlin II, Ian D. Krantz, Eric S. Schmitt, Shulin Zhang, Lee-Jun C. Wong, Douglas S. Kerr, Jaya Ganesh

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 285 KB

english, 2010

14

Alternative pathway or diversion therapy for urea cycle disorders now and in the future

Stephen Cederbaum, Cynthia LeMons, Mark L. Batshaw

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 118 KB

english, 2010

15

Systematic ranking of inborn errors of metabolism as targets for gene therapy

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 317 KB

english, 2010

16

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 35 KB

english, 2010

17

Volume 100; Issue 3

Apolipoprotein E polymorphisms and type 2 diabetes: A meta-analysis of 30 studies including 5423 cases and 8197 controls

Caenorhabditis elegans diet significantly affects metabolic profile, mitochondrial DNA levels, lifespan and brood size

Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: Safety, pharmacokinetics and ammonia control

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation

Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome

DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human GM1-gangliosidosis fibroblasts

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

A galactose-free diet enriched in soy isoflavones and antioxidants results in delayed onset of symptoms of Krabbe disease in twitcher mice

Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency

Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Alternative pathway or diversion therapy for urea cycle disorders now and in the future

Systematic ranking of inborn errors of metabolism as targets for gene therapy

Cover 2 / Ed. Board

Table of Contents