Molecular Genetics and Metabolism

1

Expanded newborn screening identifies maternal primary carnitine deficiency

Lisa A. Schimmenti, Eric A. Crombez, Bernd C. Schwahn, Bryce A. Heese, Timothy C. Wood, Richard J. Schroer, Kristi Bentler, Stephen Cederbaum, Kiki Sarafoglou, Mark McCann, Piero Rinaldo, Dietrich Mat

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 154 KB

english, 2007

2

Association between plasma IL-6, the IL6 −174G>C gene variant and the metabolic syndrome in type 2 diabetes mellitus

Jeffrey W. Stephens, Steven J. Hurel, Gordon D.O. Lowe, Ann Rumley, Steve E. Humphries

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 160 KB

english, 2007

3

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria

Caterina Aurizi, Xiaoye Schneider-Yin, Fiammetta Sorge, Annelisa Macrì, Elisabeth I. Minder, Gianfranco Biolcati

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 644 KB

english, 2007

4

Prevention of lysosomal storage disorders in Israel

Gideon Bach, Marsha Zeigler, Joel Zlotogora

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 176 KB

english, 2007

5

The functions of RPS19 and their relationship to Diamond–Blackfan anemia: A review

Kenji Morimoto, Shou Lin, Kathleen Sakamoto

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 169 KB

english, 2007

6

Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B

Sergey Ryazantsev, Wei-Hong Yu, Hui-Zhi Zhao, Elizabeth F. Neufeld, Kazuhiro Ohmi

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 1.82 MB

english, 2007

7

Non-Ketotic Hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening

E.S. Tan, V. Wiley, K. Carpenter, B. Wilcken

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 163 KB

english, 2007

8

Aromatic l-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes

M.M. Verbeek, P.B.H. Geurtz, M.A.A.P. Willemsen, R.A. Wevers

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 310 KB

english, 2007

9

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): Identification of a Km mutant and an analysis of the mutational sites in the structure

Satomi Sakurai, Toshiyuki Fukao, Antti M. Haapalainen, Gaixiu Zhang, Keitaro Yamada, Franco Lilliu, Shoji Yano, Peter Robinson, Michael K. Gibson, Ronald J.A. Wanders, Grant A. Mitchell, Rik K. Wieren

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 529 KB

english, 2007

10

A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats

John C. Fyfe, Rebeccah L. Kurzhals, Michelle G. Hawkins, Ping Wang, Naoya Yuhki, Urs Giger, Thomas J. Van Winkle, Mark E. Haskins, Donald F. Patterson, Paula S. Henthorn

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 422 KB

english, 2007

11

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Robert C. Wilson, Saroj Nimkarn, Miro Dumic, Jihad Obeid, Maryam Azar, Hossein Najmabadi, Fatemeh Saffari, Maria I. New

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 345 KB

english, 2007

12

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots

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

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 280 KB

english, 2007

13

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome

Sophie Lebon, Diana Rodriguez, Delphine Bridoux, Amal Zerrad, Agnès Rötig, Arnold Munnich, Alain Legrand, Abdelhamid Slama

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 310 KB

english, 2007

14

Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy

Anita M. Arola, Ximena Sanchez, Ross T. Murphy, Erika Hasle, Hua Li, Perry M. Elliott, William J. McKenna, Jeffrey A. Towbin, Neil E. Bowles

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2007

15

Abetalipoproteinemia in Israel: Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient

Liat Benayoun, Esther Granot, Leah Rizel, Stavit Allon-Shalev, Doron M. Behar, Tamar Ben-Yosef

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 333 KB

english, 2007

16

No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents

Timo Dirk Müller, Kathrin Reichwald, Anne-Kathrin Wermter, Günter Brönner, Thuy Trang Nguyen, Susann Friedel, Kerstin Koberwitz, Stefan Engeli, Peter Lichtner, Thomas Meitinger, Helmut Schäfer, Johann

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 227 KB

english, 2007

17

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

Els Schollen, Liesbeth Keldermans, François Foulquier, Paz Briones, Amparo Chabas, Félix Sánchez-Valverde, Maciej Adamowicz, Ewa Pronicka, Ron Wevers, Gert Matthijs

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 368 KB

english, 2007

18

Editorial Board

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 671 KB

english, 2007

19

Volume Contents

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

21

Author Index

Journal:

Molecular Genetics and Metabolism

Année:

2007

Fichier:

PDF, 86 KB

2007

Volume 90; Issue 4

Expanded newborn screening identifies maternal primary carnitine deficiency

Association between plasma IL-6, the IL6 −174G>C gene variant and the metabolic syndrome in type 2 diabetes mellitus

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria

Prevention of lysosomal storage disorders in Israel

The functions of RPS19 and their relationship to Diamond–Blackfan anemia: A review

Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B

Non-Ketotic Hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening

Aromatic l-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): Identification of a Km mutant and an analysis of the mutational sites in the structure

A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome

Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy

Abetalipoproteinemia in Israel: Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient

No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

Editorial Board

Table of Contents

Volume Contents

Author Index