Molecular Genetics and Metabolism

1

Erratum to “Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots” [Mol. Genet. Metab. 90 (2007) 449–452]

Helmut Kallwass, Cortney Carr, Joseph Gerrein, Mariah Titlow, Robert Pomponio, Deeksha Bali, Jian Dai, Priya Kishnani, Alison Skrinar, Deyanira Corzo, Joan Keutzer

Journal:

Year:

2007

Language:

english

File:

PDF, 78 KB

english, 2007

2

Differential perturbation of the Fgf/Erk1/2 and Shh pathways in the C57BL/6N and SWV embryonic limb buds after mid-gestational cadmium chloride administration

Ahmed F. Elsaid, Emmanuèle C. Délot, Michael D. Collins

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 14.13 MB

english, 2007

3

Studies of association of the CASQ1 rs2275703 polymorphism in relation to type 2 diabetes and related quantitative metabolic traits among 7088 Danish whites

Thomas Sparsø, Meena Shaheen Hussain, Knut Borch-Johnsen, Torben Jørgensen, Sten Madsbad, Torben Hansen, Oluf Pedersen, Gitte Andersen

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 131 KB

english, 2007

4

Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene

Fabiana Quagliarini, Joan-Carles Vallvé, Filomena Campagna, Adriana Alvaro, Francisco José Fuentes-Jimenez, Maria Isabella Sirinian, Francesca Meloni, Luis Masana, Marcello Arca

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 379 KB

english, 2007

5

Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy

Toya Ohashi, Mio Sakuma, Teruo Kitagawa, Ken Suzuki, Nobuyuki Ishige, Yoshikatsu Eto

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 126 KB

english, 2007

6

C-natriuretic peptide: An important regulator of cartilage

Katerina Pejchalova, Pavel Krejci, William R. Wilcox

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

7

In Silico characterization of phosphorylase kinase: Evidence for an alternate intronic polyadenylation site in PHKG1

Joni S. Winchester, Eric C. Rouchka, Naomi S. Rowland, Nancy A. Rice

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 773 KB

english, 2007

8

A novel complex deletion–insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency

Minoru Okubo, Asako Horinishi, Mieko Saito, Tetsu Ebara, Yoriko Endo, Kohei Kaku, Toshio Murase, Masaaki Eto

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 421 KB

english, 2007

9

Lowering methylation demand by creatine supplementation paradoxically decreases DNA methylation

Youri E.C. Taes, Evy Bruggeman, Joachim Bleys, Joris R. Delanghe

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 90 KB

english, 2007

10

Molecular genetics of HMG-CoA lyase deficiency

Juan Pié, Eduardo López-Viñas, Beatriz Puisac, Sebastián Menao, Angeles Pié, Cesar Casale, Feliciano J. Ramos, Fausto G. Hegardt, Paulino Gómez-Puertas, Núria Casals

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 2.26 MB

english, 2007

11

Biotin deficiency affects both synthesis and degradation of pyruvate carboxylase in rat primary hepatocyte cultures

Nayeli Rodríguez-Fuentes, Itzel López-Rosas, Gabriela Román-Cisneros, Antonio Velázquez-Arellano

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 409 KB

english, 2007

12

Analysis of the liver soluble proteome from bull terriers affected with inherited lethal acrodermatitis

Arthur Grider, Michael F. Mouat, Elizabeth A. Mauldin, Margret L. Casal

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 1.43 MB

english, 2007

13

A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis

Marta Ribasés, Mercedes Serrano, Emilio Fernández-Álvarez, Sandra Pahisa, Aida Ormazabal, Àngels García-Cazorla, Belén Pérez-Dueñas, Jaume Campistol, Rafael Artuch, Bru Cormand

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 259 KB

english, 2007

14

Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene

Toshiyuki Fukao, Petri Kursula, Elizabeth Patricia Owen, Naomi Kondo

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 512 KB

english, 2007

15

Neurotransmitter diseases and related conditions

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 250 KB

english, 2007

16

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 561 KB

english, 2007

17

Volume 92; Issue 3

Erratum to “Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots” [Mol. Genet. Metab. 90 (2007) 449–452]

Differential perturbation of the Fgf/Erk1/2 and Shh pathways in the C57BL/6N and SWV embryonic limb buds after mid-gestational cadmium chloride administration

Studies of association of the CASQ1 rs2275703 polymorphism in relation to type 2 diabetes and related quantitative metabolic traits among 7088 Danish whites

Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene

Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy

C-natriuretic peptide: An important regulator of cartilage

In Silico characterization of phosphorylase kinase: Evidence for an alternate intronic polyadenylation site in PHKG1

A novel complex deletion–insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency

Lowering methylation demand by creatine supplementation paradoxically decreases DNA methylation

Molecular genetics of HMG-CoA lyase deficiency

Biotin deficiency affects both synthesis and degradation of pyruvate carboxylase in rat primary hepatocyte cultures

Analysis of the liver soluble proteome from bull terriers affected with inherited lethal acrodermatitis

A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis

Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene

Neurotransmitter diseases and related conditions

Cover 2 / Ed. Board

Table of Contents