Molecular Genetics and Metabolism

1

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

E. Leshinsky-Silver, Anne-Sophie Lebre, Limor Minai, Ann Saada, Julie Steffann, Sarit Cohen, Agnes Rötig, Arnold Munnich, Dorit Lev, Tally Lerman-Sagie

Journal:

Year:

2009

Language:

english

File:

PDF, 349 KB

english, 2009

2

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNATrp in patients with Leigh syndrome

Emna Mkaouar-Rebai, Imen Chamkha, Fatma Kammoun, Thouraya Kammoun, Hajer Aloulou, Mongia Hachicha, Chahnez Triki, Faiza Fakhfakh

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 934 KB

english, 2009

3

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Shingo Kumamoto, Tatsuya Katafuchi, Kimitoshi Nakamura, Fumio Endo, Eri Oda, Torayuki Okuyama, Marian A. Kroos, Arnold J.J. Reuser, Toshika Okumiya

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 240 KB

english, 2009

4

Mechanism of shortened bones in mucopolysaccharidosis VII

Jason A. Metcalf, Yanming Zhang, Matthew J. Hilton, Fanxin Long, Katherine P. Ponder

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 2.62 MB

english, 2009

5

Long-term outcome in methylmalonic aciduria: A series of 30 French patients

M.A. Cosson, J.F. Benoist, G. Touati, M. Déchaux, N. Royer, L. Grandin, J.P. Jais, N. Boddaert, V. Barbier, I. Desguerre, P.M. Campeau, D. Rabier, V. Valayannopoulos, P. Niaudet, P. de Lonlay

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 301 KB

english, 2009

6

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

N. Brahimi, M. Jambou, E. Sarzi, V. Serre, N. Boddaert, S. Romano, P. de Lonlay, A. Slama, A. Munnich, A. Rötig, J.P. Bonnefont, A.S. Lebre

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 894 KB

english, 2009

7

Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients

Ruud A. Bank, Johanna E.M. Groener, Justus J. van Gemund, Petra D. Maaswinkel, Kees A. Hoeben, Herman A. Schut, Vincent Everts

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 487 KB

english, 2009

8

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

Iva Karačić, David Meili, Vladimir Sarnavka, Caroline Heintz, Beat Thöny, Danijela Petković Ramadža, Ksenija Fumić, Duško Mardešić, Ivo Barić, Nenad Blau

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 212 KB

english, 2009

9

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

Walter C. Hubbard, Ann B. Moser, Anita C. Liu, Richard O. Jones, Steven J. Steinberg, Fred Lorey, Susan R. Panny, Robert F. Vogt Jr., Daniela Macaya, Coleman T. Turgeon, Silvia Tortorelli, Gerald V. R

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 666 KB

english, 2009

10

Hermansky–Pudlak syndrome type 1 in patients of Indian descent

Lisa M. Vincent, David Adams, Richard A. Hess, Shira G. Ziegler, Ekaterini Tsilou, Gretchen Golas, Kevin J. O’Brien, James G. White, Marjan Huizing, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 2.31 MB

english, 2009

11

Gb3/creatinine biomarkers for Fabry disease: Issues to consider

Christiane Auray-Blais, David S. Millington, Caroline Barr, Sarah P. Young, Kevin Mills, Joe T.R. Clarke

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 114 KB

english, 2009

12

Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses

Barbara K. Burton, Chani Wiesman, Andrea Paras, Katherine Kim, Rachel Katz

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 128 KB

english, 2009

13

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 37 KB

english, 2009

14

Hermansky-Pudlak syndrome type 1 in patients of Indian descent

Vincent, Lm, Adams, David, Hess, Ra, Ziegler, Sg

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 949 KB

english, 2009

Volume 97; Issue 3

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNATrp in patients with Leigh syndrome

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Mechanism of shortened bones in mucopolysaccharidosis VII

Long-term outcome in methylmalonic aciduria: A series of 30 French patients

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

Hermansky–Pudlak syndrome type 1 in patients of Indian descent

Gb3/creatinine biomarkers for Fabry disease: Issues to consider

Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses

Cover 2 / Ed. Board

Table of Contents

Hermansky-Pudlak syndrome type 1 in patients of Indian descent