Molecular Genetics and Metabolism

1

Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita

Hans C. Andersson, T.C. Narumanchi, Amy Cunningham, Bruce Bowdish, Jess Thoene

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 103 KB

english, 2006

2

Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

J. Martijn Bos, Rainer N. Poley, Melissa Ny, David J. Tester, Xiaolei Xu, Matteo Vatta, Jeffrey A. Towbin, Bernard J. Gersh, Steve R. Ommen, Michael J. Ackerman

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 347 KB

english, 2006

3

Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency

P.E. Sijens, D.-J. Reijngoud, R.J. Soorani-Lunsing, M. Oudkerk, F.J. van Spronsen

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 309 KB

english, 2006

4

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Toshika Okumiya, Joke L.M. Keulemans, Marian A. Kroos, Nadine M.E. Van der Beek, Marijke A. Boer, Hiroaki Takeuchi, Otto P. Van Diggelen, Arnold J.J. Reuser

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 273 KB

english, 2006

5

Childhood ataxia with CNS hypomyelination/vanishing white matter disease—A common leukodystrophy caused by abnormal control of protein synthesis

Raphael Schiffmann, Orna Elroy-Stein

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 539 KB

english, 2006

6

Riboflavin-responsive glutaryl CoA dehydrogenase deficiency

Ronald A. Chalmers, Murray D. Bain, Johannes Zschocke

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 357 KB

english, 2006

7

Succinate semialdehyde dehydrogenase deficiency does not down-regulate γ-hydroxybutyric acid binding sites in the mouse brain

Ashok K. Mehta, Georgianna G. Gould, Maneesh Gupta, Lawrence P. Carter, K. Michael Gibson, Maharaj K. Ticku

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 169 KB

english, 2006

8

Can the DCoHα isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?

Joan M. Hevel, Jason A. Stewart, Katherine L. Gross, June E. Ayling

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 416 KB

english, 2006

9

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

Ana Friães, Ana Toste Rêgo, José Maria Aragüés, Luís Francisco Moura, Alice Mirante, Mário Rui Mascarenhas, Teresa Taylor Kay, Lurdes Afonso Lopes, José Cidade Rodrigues, Sílvia Guerra, Teresa Dias, A

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 430 KB

english, 2006

10

d-2-Hydroxyglutaric aciduria in three patients with proven SSADH deficiency: Genetic coincidence or a related biochemical epiphenomenon?

E.A. Struys, N.M. Verhoeven, G.S. Salomons, J. Berthelot, C. Vianay-Saban, S. Chabrier, J.A. Thomas, A. Chun-Hui Tsai, K.M. Gibson, C. Jakobs

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 199 KB

english, 2006

11

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I

Mark J. Magera, Nishantha D. Gunawardena, Si Houn Hahn, Silvia Tortorelli, Grant A. Mitchell, Stephen I. Goodman, Piero Rinaldo, Dietrich Matern

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 276 KB

english, 2006

12

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina

Alice A. Basinger, Jessica K. Booker, Dianne M. Frazier, Dwight D. Koeberl, Jennifer A. Sullivan, Joseph Muenzer

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 141 KB

english, 2006

13

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

Ivanka Sinigerska, David Chandler, Vijesh Vaghjiani, Irfet Hassanova, Rebecca Gooding, Amelia Morrone, Ivo Kremensky, Luba Kalaydjieva

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 138 KB

english, 2006

14

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene

Celia J. Angaroni, Philippe Labrune, François Petit, Dario Sastre, Ana E. Capra, Raquel Dodelson de Kremer, Carlos E. Argaraña

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 211 KB

english, 2006

15

IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene

Janna E. Hutz, Andrea S. Krause, John C. Achermann, Eric Vilain, Maïthé Tauber, Claudine Lecointre, Edward R.B. McCabe, Gary D. Hammer, Catherine E. Keegan

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 233 KB

english, 2006

16

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

S. Wortmann, R.J.T. Rodenburg, M. Huizing, F.J. Loupatty, T. de Koning, L.A.J. Kluijtmans, U. Engelke, R. Wevers, J.A.M. Smeitink, E. Morava

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 212 KB

english, 2006

17

Research Study Announcement: Longitudinal study of urea cycle disorders

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 63 KB

english, 2006

18

Editorial Board

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 215 KB

english, 2006

19

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity

Yanlin Xing, Fukiko Ichida, Taro Matsuoka, Takeshi Isobe, Yumiko Ikemoto, Takashi Higaki, Tohru Tsuji, Noriyuki Haneda, Atsushi Kuwabara, Rui Chen, Takeshi Futatani, Shinichi Tsubata, Sayaka Watanabe,

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 916 KB

english, 2006

Volume 88; Issue 1

Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita

Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Childhood ataxia with CNS hypomyelination/vanishing white matter disease—A common leukodystrophy caused by abnormal control of protein synthesis

Riboflavin-responsive glutaryl CoA dehydrogenase deficiency

Succinate semialdehyde dehydrogenase deficiency does not down-regulate γ-hydroxybutyric acid binding sites in the mouse brain

Can the DCoHα isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

d-2-Hydroxyglutaric aciduria in three patients with proven SSADH deficiency: Genetic coincidence or a related biochemical epiphenomenon?

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene

IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

Research Study Announcement: Longitudinal study of urea cycle disorders

Editorial Board

Table of Contents

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity