Molecular Genetics and Metabolism

1

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia

Ana Bustamante-Aragones, Celia Pérez-Cerdá, Belén Pérez, Marta Rodriguez de Alba, Magdalena Ugarte, Carmen Ramos

Journal:

Year:

2008

Language:

english

File:

PDF, 838 KB

english, 2008

2

Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism

Lama Yamani, Bernard F. Gibbs, Brian M. Gilfix, David Watkins, Angela Hosack, David S. Rosenblatt

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 581 KB

english, 2008

3

Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: Myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain

Roberto Buccafusca, Charles P. Venditti, Lawrence C. Kenyon, Roy A. Johanson, Elisabeth Van Bockstaele, Jun Ren, Silvia Pagliardini, Jeremy Minarcik, Jeffrey A. Golden, Michael J. Coady, John J. Greer

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.87 MB

english, 2008

4

Cell-based therapies for metabolic liver disease

Gregory M. Enns, Maria T. Millan

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 227 KB

english, 2008

5

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

S.E. Waisbren, H.L. Levy, M. Noble, D. Matern, N. Gregersen, K. Pasley, D. Marsden

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 648 KB

english, 2008

6

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

A.L. Gropman, S.T. Fricke, R.R. Seltzer, A. Hailu, A. Adeyemo, A. Sawyer, J. van Meter, W.D. Gaillard, R. McCarter, M. Tuchman, M. Batshaw

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.29 MB

english, 2008

7

Growth rate of patient-derived lymphoblastoid cells with LRRK2 mutations

Eng-King Tan, Lawrence Sie, Susan Loong

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 136 KB

english, 2008

8

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy

Maximilian G. Posch, Matthias J. Posch, Christian Geier, Bettina Erdmann, Wolf Mueller, Anette Richter, Volker Ruppert, Sabine Pankuweit, Bernhard Maisch, Andreas Perrot, Jens Buttgereit, Rainer Dietz

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.52 MB

english, 2008

9

The molecular basis of pyruvate carboxylase deficiency: Mosaicism correlates with prolonged survival

Dong Wang, Hong Yang, Kevin C. De Braganca, Jiesheng Lu, Ling Yu Shih, Paz Briones, Tim Lang, Darryl C. De Vivo

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 421 KB

english, 2008

10

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

M.A. Cosson, G. Touati, F. Lacaille, V. Valayannnopoulos, C. Guyot, G. Guest, V. Verkarre, D. Chrétien, D. Rabier, A. Munnich, J.F. Benoist, Y. de Keyzer, P. Niaudet, P. de Lonlay

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 579 KB

english, 2008

11

Association of the BDNF Val66Met variation with obesity in women

Sigri Beckers, Armand Peeters, Doreen Zegers, Ilse Mertens, Luc Van Gaal, Wim Van Hul

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 574 KB

english, 2008

12

ERCC1 is required for FANCD2 focus formation

Kevin M. McCabe, Aaron Hemphill, Yassmine Akkari, Petra M. Jakobs, Daniel Pauw, Susan B. Olson, Robb E. Moses, Markus Grompe

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.32 MB

english, 2008

13

Spontaneous appearance of Tay–Sachs disease in an animal model

B.J. Zeng, P.A. Torres, T.C. Viner, Z.H. Wang, S.S. Raghavan, J. Alroy, G.M. Pastores, E.H. Kolodny

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.12 MB

english, 2008

14

LPIN1 genetic variation is associated with rosiglitazone response in type 2 diabetic patients

Eun Seok Kang, Se Eun Park, Seung Jin Han, So Hun Kim, Chung Mo Nam, Chul Woo Ahn, Bong Soo Cha, Kyung Sub Kim, Hyun Chul Lee

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 612 KB

english, 2008

15

Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency

Jamiyan Purevsuren, Toshiyuki Fukao, Yuki Hasegawa, Seiji Fukuda, Hironori Kobayashi, Seiji Yamaguchi

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 639 KB

english, 2008

16

Stability of blood phenylalanine levels and IQ in children with phenylketonuria

Vera Anastasoaie, Laura Kurzius, Peter Forbes, Susan Waisbren

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 173 KB

english, 2008

17

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism

Philippe M. Campeau, Charles R. Scriver, John J. Mitchell

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 571 KB

english, 2008

18

Enzyme replacement therapy in Fabry disease: Comparison of agalsidase alfa and agalsidase beta

Atul Mehta, Michael Beck, Christoph Kampmann, Andrea Frustaci, Dominique P. Germain, Gregory M. Pastores, Gere Sunder-Plassmann

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 135 KB

english, 2008

19

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

Benedikt Schoser, Claudio Bruno, Hans-Christian Schneider, Yoon S. Shin, Teodor Podskarbi, Lev Goldfarb, Wolfgang Müller-Felber, Josef Müller-Höcker

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.74 MB

english, 2008

20

Attitudes regarding vaccination among practitioners of clinical biochemical genetics

Bruce A. Barshop, Marshall L. Summar

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 133 KB

english, 2008

21

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 3.29 MB

english, 2008

22

Volume 95; Issue 1-2

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia

Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism

Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: Myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain

Cell-based therapies for metabolic liver disease

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

Growth rate of patient-derived lymphoblastoid cells with LRRK2 mutations

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy

The molecular basis of pyruvate carboxylase deficiency: Mosaicism correlates with prolonged survival

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

Association of the BDNF Val66Met variation with obesity in women

ERCC1 is required for FANCD2 focus formation

Spontaneous appearance of Tay–Sachs disease in an animal model

LPIN1 genetic variation is associated with rosiglitazone response in type 2 diabetic patients

Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency

Stability of blood phenylalanine levels and IQ in children with phenylketonuria

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism

Enzyme replacement therapy in Fabry disease: Comparison of agalsidase alfa and agalsidase beta

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

Attitudes regarding vaccination among practitioners of clinical biochemical genetics

Cover 2 / Ed. Board

Table of Contents