Molecular Genetics and Metabolism

1

Functional and metabolic implications of biotin deficiency for the rat heart

Antonio Velázquez-Arellano, María de la Luz Hernández-Esquivel, Rafael Moreno Sánchez, Daniel Ortega-Cuellar, Nayeli Rodríguez-Fuentes, Saúl Cano, Alfonso León-Del-Río, Karla Carvajal

Journal:

Year:

2008

Language:

english

File:

PDF, 274 KB

english, 2008

2

Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib

Shih-Yin Chen, Chi-Jiunn Pan, Soojung Lee, Wentao Peng, Janice Y. Chou

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 186 KB

english, 2008

3

Enzyme replacement therapy in Fabry disease: Towards a better understanding of the implications of antibody formation and dose

C.E.M. Hollak, A.C. Vedder, B. Winchester, J.M.F.G. Aerts, F. Breunig

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 123 KB

english, 2008

4

A novel HEXB mutation and its structural effects in juvenile Sandhoff disease

S.Z. Wang, M.B. Cachón-González, P.E. Stein, R.H. Lachmann, P.C. Corry, J.E. Wraith, T.M. Cox

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 237 KB

english, 2008

5

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study

Laura E. Case, Dwight D. Koeberl, Sarah P. Young, Deeksha Bali, Stephanie M. DeArmey, Joanne Mackey, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 199 KB

english, 2008

6

Novel sequence variants of the α-galactosidase A gene in patients with Fabry disease

Melinda Erdős, Krisztina Németh, Beáta Tóth, Tamás Constantin, Éva Rákóczi, Andrea Ponyi, Angéla Dajnoki, János Grubits, István Pintér, Ferencz Garzuly, Katalin Hahn, Krisztina Bencsik, László Vécsei,

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 283 KB

english, 2008

7

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

Reena Jethva, Can Ficicioglu

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 113 KB

english, 2008

8

MTTP variants and body mass index, waist circumference and serum cholesterol level: Association analyses in 7582 participants of the KORA study cohort

Mike Böhme, Harald Grallert, Alexandra Fischer, Christian Gieger, Inke Nitz, Iris Heid, Christine Kohl, H.-Erich Wichmann, Thomas Illig, Frank Döring

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 150 KB

english, 2008

9

Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening

Can Ficicioglu, Nina Thomas, Claire Yager, Paul R. Gallagher, Christie Hussa, Andrea Mattie, Debra L. Day-Salvatore, Brian J. Forbes

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 261 KB

english, 2008

10

Management of a patient with holocarboxylase synthetase deficiency

Johan L.K. Van Hove, Sagi Josefsberg, Cynthia Freehauf, Janet A. Thomas, Le Phuc Thuy, Bruce A. Barshop, Michael Woontner, Donald M. Mock, Pei-Wen Chiang, Elaine Spector, Iván Meneses-Morales, Rafael

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 303 KB

english, 2008

11

Short-chain acyl-coenzyme A dehydrogenase deficiency

Reena Jethva, Michael J. Bennett, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 168 KB

english, 2008

12

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 37 KB

english, 2008

13

Volume 95; Issue 4

Functional and metabolic implications of biotin deficiency for the rat heart

Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib

Enzyme replacement therapy in Fabry disease: Towards a better understanding of the implications of antibody formation and dose

A novel HEXB mutation and its structural effects in juvenile Sandhoff disease

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study

Novel sequence variants of the α-galactosidase A gene in patients with Fabry disease

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

MTTP variants and body mass index, waist circumference and serum cholesterol level: Association analyses in 7582 participants of the KORA study cohort

Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening

Management of a patient with holocarboxylase synthetase deficiency

Short-chain acyl-coenzyme A dehydrogenase deficiency

Cover 2 / Ed. Board

Table of Contents