Molecular Genetics and Metabolism

1

Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse

Curzio Solcà, Bhaswati Pandit, Hongwei Yu, G. Stephen Tint, Shailendra B. Patel

Journal:

Year:

2007

Language:

english

File:

PDF, 189 KB

english, 2007

2

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

Massimo Santoro, Anna Modoni, Mario Sabatelli, Francesca Madia, Fiorella Piemonte, Giulia Tozzi, Enzo Ricci, Pietro A. Tonali, Gabriella Silvestri

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 333 KB

english, 2007

3

LPA +93C>T and +121G>A polymorphisms detection by electronic microchip technology

Elena Sticchi, Meri Lenti, Betti Giusti, Ilaria Sestini, Rosanna Abbate, Cinzia Fatini

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 724 KB

english, 2007

4

Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid

Patricia Dickson, Michael McEntee, Carole Vogler, Steven Le, Beth Levy, Maryn Peinovich, Stephen Hanson, Merry Passage, Emil Kakkis

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 1.09 MB

english, 2007

5

HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Stanley H. Korman, Song-Yu Yang

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 84 KB

english, 2007

6

Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase

Shunji Tomatsu, Adriana M. Montaño, Monica Gutierrez, Jeffrey H. Grubb, Hirotaka Oikawa, Vu Chi Dung, Amiko Ohashi, Tatsuo Nishioka, Masamichi Yamada, Mana Yamada, Yasuhiro Tosaka, Georgeta G. Trandaf

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 533 KB

english, 2007

7

A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

L.S. Almeida, L. Vilarinho, P.S. Darmin, E.H. Rosenberg, C. Martinez-Muñoz, C. Jakobs, G.S. Salomons

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 756 KB

english, 2007

8

Modulator of plasmalemma standing VDAC revealed !?

Friedrich P. Thinnes

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 101 KB

english, 2007

9

DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients

Sandra G. Heil, Niels P. Riksen, Godfried H. Boers, Yvo Smulders, Henk J. Blom

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 983 KB

english, 2007

10

Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida

Ivon J.M. van der Linden, Uyen Nguyen, Sandra G. Heil, Barbara Franke, Suzanne Vloet, Henkjan Gellekink, Martin den Heijer, Henk J. Blom

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 294 KB

english, 2007

11

Safety of intracerebroventricular copper histidine in adult rats

Kristen E. Lem, Lauren R. Brinster, Olga Tjurmina, Martin Lizak, Simina Lal, Jose A. Centeno, Po-Ching Liu, Sarah C. Godwin, Stephen G. Kaler

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 1.74 MB

english, 2007

12

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

Gregory M. Pastores, Pamela Arn, Michael Beck, Joe T.R. Clarke, Nathalie Guffon, Paige Kaplan, Joseph Muenzer, Denise Y.J. Norato, Elsa Shapiro, Janet Thomas, David Viskochil, J. Edmond Wraith

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 735 KB

english, 2007

13

Systems analysis of energy metabolism elucidates the affected respiratory chain complex in Leigh’s syndrome

Thuy D. Vo, W.N. Paul Lee, Bernhard O. Palsson

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 449 KB

english, 2007

14

Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase

C. Lee Elmore, Xuchu Wu, Daniel Leclerc, Erica D. Watson, Teodoro Bottiglieri, Natalia I. Krupenko, Sergey A. Krupenko, James C. Cross, Rima Rozen, Roy A. Gravel, Rowena G. Matthews

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 699 KB

english, 2007

15

The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study

Suzanne Schindeler, Suparna Ghosh-Jerath, Susan Thompson, Antonella Rocca, Pamela Joy, Allan Kemp, Caroline Rae, Kathryn Green, Bridget Wilcken, John Christodoulou

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 216 KB

english, 2007

16

Polymorphisms in methionine synthase reductase and betaine-homocysteine S-methyltransferase genes: Risk of placental abruption

Cande V. Ananth, Denise A. Elsasser, Wendy L. Kinzler, Morgan R. Peltier, Darios Getahun, Daniel Leclerc, Rima R. Rozen

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 149 KB

english, 2007

17

Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria

Hava Peretz, Meirav Shtauber Naamati, David Levartovsky, Ayala Lagziel, Esther Shani, Ivona Horn, Hanna Shalev, Daniel Landau

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 663 KB

english, 2007

18

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 673 KB

english, 2007

19

Volume 91; Issue 1

Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

LPA +93C>T and +121G>A polymorphisms detection by electronic microchip technology

Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid

HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase

A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

Modulator of plasmalemma standing VDAC revealed !?

DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients

Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida

Safety of intracerebroventricular copper histidine in adult rats

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

Systems analysis of energy metabolism elucidates the affected respiratory chain complex in Leigh’s syndrome

Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase

The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study

Polymorphisms in methionine synthase reductase and betaine-homocysteine S-methyltransferase genes: Risk of placental abruption

Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria

Cover 2 / Ed. Board

Table of Contents