Molecular Genetics and Metabolism

1

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

András N. Spaan, Lodewijk IJlst, Carlo W.T. van Roermund, Frits A. Wijburg, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Year:

2005

Language:

english

File:

PDF, 545 KB

english, 2005

2

Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations

R.J. Pomponio, M.A. Cabrera-Salazar, O.Y. Echeverri, G. Miller, L.A. Barrera

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 372 KB

english, 2005

3

First characterization of a large deletion of the PDHA1 gene

Michèle Brivet, Marie-Laure Moutard, Mokhtar Zater, Lydia Venet, Claude Chenel, Manuele Mine, A. Legrand

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 291 KB

english, 2005

4

Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect

Phyllis B. Acosta, Steven Yannicelli, Alan S. Ryan, Georgianne Arnold, Barbara J. Marriage, Magda Plewinska, Laurie Bernstein, Joyce Fox, Vyonne Lewis, Marvin Miller, Antonio Velazquez

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 249 KB

english, 2005

5

The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter

Hiroki Morizono, Joelle E. Woolston, Marco Colombini, Mendel Tuchman

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 363 KB

english, 2005

6

Two-tiered universal newborn screening strategy for severe combined immunodeficiency

Sean A. McGhee, E. Richard Stiehm, Morton Cowan, Paul Krogstad, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 151 KB

english, 2005

7

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement

A. Slama, I. Giurgea, D. Debrey, D. Bridoux, P. de Lonlay, P. Levy, D. Chretien, M. Brivet, A. Legrand, P. Rustin, A. Munnich, A. Rötig

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 199 KB

english, 2005

8

Elements of diabetic nephropathy in a patient with GLUT2 deficiency

Gerard T. Berry, John W. Baynes, Kevin J. Wells-Knecht, Benjamin S. Szwergold, René Santer

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 151 KB

english, 2005

9

Familial hypercholesterolemia

Masako Ueda

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 110 KB

english, 2005

10

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 258 KB

english, 2005

11

Volume Index

Journal:

Molecular Genetics and Metabolism

Year:

2005

File:

PDF, 71 KB

2005

13

Volume Contents

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 71 KB

english, 2005

14

Keyword Index

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 105 KB

english, 2005

Volume 86; Issue 4

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations

First characterization of a large deletion of the PDHA1 gene

Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect

The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter

Two-tiered universal newborn screening strategy for severe combined immunodeficiency

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement

Elements of diabetic nephropathy in a patient with GLUT2 deficiency

Familial hypercholesterolemia

Editorial Board

Table of Contents

Volume Index

Volume Contents

Keyword Index