Volume 106; Issue 4

Molecular Genetics and Metabolism

Volume 106; Issue 4

1

Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening

Krista Viau, Sharon L. Ernst, Rena J. Vanzo, Lorenzo D. Botto, Marzia Pasquali, Nicola Longo

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 592 KB

english, 2012

2

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening

Georgianne L. Arnold, Denise Salazar, Julie A. Neidich, Pim Suwannarat, Brett H. Graham, Uta Lichter-Konecki, Annet M. Bosch, Kristina Cusmano-Ozog, Greg Enns, Erica L. Wright, Brendan C. Lanpher, Nat

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 144 KB

english, 2012

3

Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD)

Y. Trakadis, D. Kadlubowska, R. Barnes, J. Mitchell, E. Spector, F. Frerman, S. Melancon

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 132 KB

english, 2012

4

Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: Diagnosis of mitochondrial respiratory chain disorders

Takuma Yamamoto, Yuko Emoto, Kei Murayama, Hidekazu Tanaka, Yukiko Kuriu, Akira Ohtake, Ryoji Matoba

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 648 KB

english, 2012

5

Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility

Lorne A. Clarke, Bryan Winchester, Roberto Giugliani, Anna Tylki-Szymańska, Hernan Amartino

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 409 KB

english, 2012

6

Novel pathogenic mutations in the glucocerebrosidase locus

Raquel Duran, Alisdair McNeill, Atul Mehta, Derralyn Hughes, Timothy Cox, Patrick Deegan, Anthony H.V. Schapira, John Hardy

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 147 KB

english, 2012

7

Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Lisa D. Hobson-Webb, Alan D. Proia, Beth L. Thurberg, Suhrad Banugaria, Sean N. Prater, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.49 MB

english, 2012

8

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

Nithiwat Vatanavicharn, Voraratt Champattanachai, Somporn Liammongkolkul, Phannee Sawangareetrakul, Siriporn Keeratichamroen, James R. Ketudat Cairns, Chantragan Srisomsap, Achara Sathienkijkanchai, V

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 292 KB

english, 2012

9

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11

Caroline Heintz, Steven F. Dobrowolski, Henriette Skovgaard Andersen, Mübeccel Demirkol, Nenad Blau, Brage Storstein Andresen

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.31 MB

english, 2012

10

Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations

Halil Dündar, Rıza Köksal Özgül, Ayşegül Güzel-Ozantürk, Ali Dursun, Serap Sivri, Didem Aliefendioğlu, Turgay Coşkun, Ayşegül Tokatlı

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.12 MB

english, 2012

11

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization

Elisa Fermo, Paola Bianchi, Laurent Roberto Chiarelli, Maristella Maggi, Giuseppa Maria Luana Mandarà, Cristina Vercellati, Anna Paola Marcello, Wilma Barcellini, Agostino Cortelezzi, Giovanna Valenti

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 633 KB

english, 2012

12

Increased incidence of profound biotinidase deficiency among Hispanic newborns in California

Tina M. Cowan, Niloufar Neely Kazerouni, Nilesh Dharajiya, Fred Lorey, Marie Roberson, Christina Hodgkinson, Iris Schrijver

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 138 KB

english, 2012

13

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I

Saumya S. Jamuar, Stephanie A. Newton, Sanjay P. Prabhu, Leah Hecht, Karen C. Costas, Ann E. Wessel, David J. Harris, Irina Anselm, Gerard T. Berry

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 301 KB

english, 2012

14

Corrigendum to “Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form” [Molecular Genetics and Metabolism 94/2 (2008) 234–239]

Aleix Navarro-Sastre, Elena Martín-Hernández, Yolanda Campos, Ester Quintana, Enrique Medina, Rogelio Simón de las Heras, Montserrat Lluch, Alberto Muñoz, Pilar del Hoyo, Rebeca Martín, Laura Gort, Pa

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 91 KB

english, 2012

15

Analysis of gene mutations in Chinese patients with maple syrup urine disease

Nan Yang, Lianshu Han, Xuefan Gu, Jun Ye, Wenjuan Qiu, Huiwen Zhang, Zhuwen Gong, Yafen Zhang

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.19 MB

english, 2012

16

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia

Ying Liu, Baoyun Xia, Tyler J. Gleason, Uriel Castañeda, Miao He, Gerard T. Berry, Judith L. Fridovich-Keil

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.00 MB

english, 2012

17

Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: Comment on pathogenesis of a novel complication

Gustavo H. Cabrera, Isabel Fernández, Marcelo Dominguez, Lorne A. Clarke

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

18

Lesch–Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA

Khue Vu Nguyen, Robert K. Naviaux, Kacie K. Paik, William L. Nyhan

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 261 KB

english, 2012

19

Alzheimer disease controls cancer — Concerning the apoptogenic interaction of cell membrane-standing type-1 VDAC and amyloid peptides via GxxxG motifs

Friedrich P. Thinnes

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 123 KB

english, 2012

20

Recurrent pancreatitis in ornithine transcarbamylase deficiency

Carlos E. Prada, Ajay Kaul, Robert J. Hopkin, Kimberley I. Page, Jaimie D. Nathan, Dennis W. Bartholomew, Mitchell B. Cohen, James E. Heubi, Nancy D. Leslie, T. Andrew Burrow

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 128 KB

english, 2012

21

Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Marion B. Coulter-Mackie, Ailin Li, Qun Lian, Eduard Struys, Sylvia Stockler, Paula J. Waters

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 305 KB

english, 2012

22

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 450 KB

english, 2012

23

Contents List

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 105 KB

english, 2012