Molecular Genetics and Metabolism

1

Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase

Claire Yager, Cong Ning, Robert Reynolds, Nancy Leslie, Stanton Segal

Journal:

Year:

2004

Language:

english

File:

PDF, 238 KB

english, 2004

2

Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population

Laura del Bosque-Plata, Carlos A Aguilar-Salinas, Marı́a Teresa Tusié-Luna, Salvador Ramı́rez-Jiménez, Maribel Rodrı́guez-Torres, Moisés Aurón-Gómez, Erika Ramı́rez, Marı́a Luisa Velasco-Pérez, Alfred

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 100 KB

english, 2004

3

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease

Catherine Lynn T Silao, Carmencita D Padilla, Masafumi Matsuo

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 146 KB

english, 2004

4

Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC

Jonathon M Flanagan, Orna Tighe, Charles O’ Neill, Eileen Naughten, Philip D Mayne, David T Croke

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 92 KB

english, 2004

5

Molecular genetics of autosomal recessive polycystic kidney disease

Peter C Harris, Sandro Rossetti

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 287 KB

english, 2004

6

Comparative genomic analysis of the HNF-4α transcription factor gene

Allison M Bagwell, Alain Bailly, Josyf C Mychaleckyj, Barry I Freedman, Donald W Bowden

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 395 KB

english, 2004

7

The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians

Marie-Thérèse Berthier, Patrick Couture, Alain Houde, Ann-Marie Paradis, Alya’a Sammak, Andrei Verner, Jean-Pierre Deprés, Claude Gagné, Daniel Gaudet, Marie-Claude Vohl

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 96 KB

english, 2004

8

Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects

Huiping Zhu, Ned J Wicker, Kelly Volcik, Jing Zhang, Gary M Shaw, Edward J Lammer, Lucina Suarez, Mark Canfield, Richard H Finnell

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 217 KB

english, 2004

9

Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene

Chloe M Mak, Karen S.L Lam, Kathryn C.B Tan, Oliver C Ma, Sidney Tam

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 139 KB

english, 2004

10

In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA

Adeline A Lau, Kim M Hemsley, Adrian Meedeniya, John J Hopwood

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 291 KB

english, 2004

11

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

R Cerone, M.C Schiaffino, A.R Fantasia, M Perfumo, L Birk Moller, N Blau

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 148 KB

english, 2004

12

Effects of odd-numbered medium-chain fatty acids on the accumulation of long-chain 3-hydroxy-fatty acids in long-chain L-3-hydroxyacyl CoA dehydrogenase and mitochondrial trifunctional protein deficient skin fibroblasts

Patricia M Jones, Yasmeen M Butt, Michael J Bennett

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 165 KB

english, 2004

13

IFC - Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 435 KB

english, 2004

14

Volume 81; Issue 2

Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase

Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease

Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC

Molecular genetics of autosomal recessive polycystic kidney disease

Comparative genomic analysis of the HNF-4α transcription factor gene

The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians

Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects

Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene

In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

Effects of odd-numbered medium-chain fatty acids on the accumulation of long-chain 3-hydroxy-fatty acids in long-chain L-3-hydroxyacyl CoA dehydrogenase and mitochondrial trifunctional protein deficient skin fibroblasts

IFC - Ed. Board

Table of Contents