Molecular Genetics and Metabolism

1

The role of liver transplantation in urea cycle disorders

James V Leonard, Peter J McKiernan

Journal:

Year:

2004

Language:

english

File:

PDF, 112 KB

english, 2004

2

Arginases I and II: do their functions overlap?

Stephen D Cederbaum, Hong Yu, Wayne W Grody, Rita M Kern, Paul Yoo, Ramaswamy K Iyer

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 237 KB

english, 2004

3

Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism

Charles A Stanley

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 515 KB

english, 2004

4

Ammonia toxicity to the brain and creatine

Claude Bachmann, Olivier Braissant, Anne-Marie Villard, Olivier Boulat, Hugues Henry

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 126 KB

english, 2004

5

Developing treatments for inborn errors: incentives available to the clinician

Marlene E Haffner

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 104 KB

english, 2004

6

Problems in the management of urea cycle disorders

Bridget Wilcken

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 124 KB

english, 2004

7

Mammalian N-acetylglutamate synthase

Hiroki Morizono, Ljubica Caldovic, Dashuang Shi, Mendel Tuchman

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 808 KB

english, 2004

8

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I

Marshall L Summar, Lynn Hall, Brian Christman, Frederick Barr, Heidi Smith, Asha Kallianpur, Nancy Brown, Meeta Yadav, Alecia Willis, Angela Eeds, Emma Cermak, Samantha Summar, Ann Wilson, Molly Arvin

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 275 KB

english, 2004

9

Lysinuric protein intolerance: mechanisms of pathophysiology

Manuel Palacı́n, Joan Bertran, Josep Chillarón, Raúl Estévez, Antonio Zorzano

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 809 KB

english, 2004

10

Cognitive outcome in urea cycle disorders

Andrea L Gropman, Mark L Batshaw

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 116 KB

english, 2004

11

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients

Fernando Scaglia, Susan Carter, William E O’Brien, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 179 KB

english, 2004

12

Pharmacokinetics of sodium phenylacetate and sodium benzoate following intravenous administration as both a bolus and continuous infusion to healthy adult volunteers

Robert B MacArthur, Arman Altincatal, Mendel Tuchman

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 497 KB

english, 2004

13

Urea cycle disorders workshop introduction

Mendel Tuchman

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 73 KB

english, 2004

14

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

Takeyori Saheki, Keiko Kobayashi, Mikio Iijima, Masahisa Horiuchi, Laila Begum, Md.Abdul Jalil, Meng Xian Li, Yao Bang Lu, Miharu Ushikai, Ayako Tabata, Mitsuaki Moriyama, Kwang-Jen Hsiao, Yanling Yan

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 275 KB

english, 2004

16

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 295 KB

english, 2004

Volume 81; Issue supp-S

The role of liver transplantation in urea cycle disorders

Arginases I and II: do their functions overlap?

Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism

Ammonia toxicity to the brain and creatine

Developing treatments for inborn errors: incentives available to the clinician

Problems in the management of urea cycle disorders

Mammalian N-acetylglutamate synthase

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I

Lysinuric protein intolerance: mechanisms of pathophysiology

Cognitive outcome in urea cycle disorders

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients

Pharmacokinetics of sodium phenylacetate and sodium benzoate following intravenous administration as both a bolus and continuous infusion to healthy adult volunteers

Urea cycle disorders workshop introduction

Table of contents

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

Editorial Board