Molecular Genetics and Metabolism

1

ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis

Ana Marcão, Eugénia Pinto, Sónia Rocha, M.C Sá Miranda, Luı́s Ferreira, Olga Amaral

Journal:

Year:

2003

Language:

english

File:

PDF, 83 KB

english, 2003

2

N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria

Boris Gebhardt, Stefan Vlaho, Doris Fischer, Adrian Sewell, Hansjosef Böhles

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

3

Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency

E Leshinsky-Silver, A Levine, A Nissenkorn, V Barash, M Perach, E Buzhaker, M Shahmurov, S Polak-Charcon, D Lev, T Lerman-Sagie

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 442 KB

english, 2003

4

Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia–hyperammonemia–homocitrullinuria syndrome, a urea cycle disorder

José A Camacho, Natalia Rioseco-Camacho, Dario Andrade, John Porter, Jin Kong

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 1.77 MB

english, 2003

5

Novel mutations in a Thai patient with methylmalonic acidemia

Voraratt Champattanachai, James R Ketudat Cairns, Vorasuk Shotelersuk, Siriporn Keeratichamroen, Phannee Sawangareetrakul, Chantragan Srisomsap, Verachai Kaewpaluek, Jisnuson Svasti

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 85 KB

english, 2003

6

Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency

Sacha Ferdinandusse, Barbara Finckh, Yvette C de Hingh, Lida E.M Stroomer, Simone Denis, Alfried Kohlschütter, Ronald J.A Wanders

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 119 KB

english, 2003

7

Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer

Jonna B. Westover, Stephen I. Goodman, Frank E. Frerman

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 252 KB

english, 2003

8

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)

Jennifer R Toone, Derek A Applegarth, Harvey L Levy, Marion B Coulter-Mackie, Gary Lee

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 249 KB

english, 2003

9

Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow

Yi Zheng, Nora Rozengurt, Sergey Ryazantsev, Donald B Kohn, Noriko Satake, Elizabeth F Neufeld

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 1004 KB

english, 2003

10

IFC - Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 393 KB

english, 2003

11

Volume Index

Journal:

Molecular Genetics and Metabolism

Year:

2003

File:

PDF, 59 KB

2003

13

Volume Contents

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 53 KB

english, 2003

14

Cellular distribution of phosphofructokinase activity and implications to metabolic regulation in human breast cancer

Tatiana El-Bacha, Marta Sampaio de Freitas, Mauro Sola-Penna

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 144 KB

english, 2003

Volume 79; Issue 4

ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis

N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria

Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency

Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia–hyperammonemia–homocitrullinuria syndrome, a urea cycle disorder

Novel mutations in a Thai patient with methylmalonic acidemia

Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency

Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)

Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow

IFC - Ed. Board

Table of Contents

Volume Index

Volume Contents

Cellular distribution of phosphofructokinase activity and implications to metabolic regulation in human breast cancer