Molecular Genetics and Metabolism

1

A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female

Pascal Bernard, Louisa Ludbrook, Gloria Queipo, Mary-Beth Dinulos, Gad B. Kletter, Yao-Hua Zhang, James K. Phelan, Edward R.B. McCabe, Vincent R. Harley, Eric Vilain

Journal:

Year:

2006

Language:

english

File:

PDF, 600 KB

english, 2006

2

Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis

Kathy K. Niakan, Emily C. Davis, Robert C. Clipsham, Meisheng Jiang, Deborah B. Dehart, Kathleen K. Sulik, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.59 MB

english, 2006

3

Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I

P.E. Sijens, G.P.A. Smit, L.C. Meiners, M. Oudkerk, F.J. van Spronsen

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.48 MB

english, 2006

4

Heparin cofactor II–thrombin complex in MPS I: A biomarker of MPS disease

Derrick R. Randall, Graham B. Sinclair, Karen E. Colobong, Elly Hetty, Lorne A. Clarke

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 279 KB

english, 2006

5

Lysosomal storage diseases: Natural history and ethical and economic aspects

Ernest Beutler

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 323 KB

english, 2006

6

The −106CC genotype of the aldose reductase gene is associated with an increased risk of proliferative diabetic retinopathy in Caucasian-Brazilians with type 2 diabetes

Kátia Gonçalves dos Santos, Luís Henrique Canani, Jorge Luiz Gross, Balduíno Tschiedel, Kátia Elisabete Pires Souto, Israel Roisenberg

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 188 KB

english, 2006

7

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity

Ronny Jung, Anita Rauch, Gajja S. Salomons, Nanda M. Verhoeven, Cornelis Jakobs, K. Michael Gibson, Ehrenfried Lachmann, Jörn Oliver Sass, Udo Trautmann, Christiane Zweier, Gundula Staatz, Ina Knerr

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 278 KB

english, 2006

8

The use of betaine in the treatment of elevated homocysteine

Amy Lawson-Yuen, Harvey L. Levy

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 140 KB

english, 2006

9

The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels

Anne Parle-McDermott, James L. Mills, Anne M. Molloy, Nicola Carroll, Peadar N. Kirke, Christopher Cox, Mary R. Conley, Faith J. Pangilinan, Lawrence C. Brody, John M. Scott

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 155 KB

english, 2006

10

Enhancement of drug delivery to bone: Characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide

Tatsuo Nishioka, Shunji Tomatsu, Monica A. Gutierrez, Ken-ichi Miyamoto, Georgeta G. Trandafirescu, Patricia L.C. Lopez, Jeffrey H. Grubb, Rie Kanai, Hironori Kobayashi, Seiji Yamaguchi, Gary S. Gotte

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 651 KB

english, 2006

11

Foxl2 function in ovarian development

Nina Henriette Uhlenhaut, Mathias Treier

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 897 KB

english, 2006

12

Molecular targets and the treatment of myeloid leukemia

A. Ikeda, D.B. Shankar, M. Watanabe, F. Tamanoi, T.B. Moore, K.M. Sakamoto

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 382 KB

english, 2006

13

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 2.77 MB

english, 2006

14

Volume 88; Issue 3

A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female

Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis

Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I

Heparin cofactor II–thrombin complex in MPS I: A biomarker of MPS disease

Lysosomal storage diseases: Natural history and ethical and economic aspects

The −106CC genotype of the aldose reductase gene is associated with an increased risk of proliferative diabetic retinopathy in Caucasian-Brazilians with type 2 diabetes

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity

The use of betaine in the treatment of elevated homocysteine

The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels

Enhancement of drug delivery to bone: Characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide

Foxl2 function in ovarian development

Molecular targets and the treatment of myeloid leukemia

Cover 2 / Ed. Board

Table of Contents