Molecular Genetics and Metabolism

1

Structure and function of the mammalian fibrillin gene family: Implications for human connective tissue diseases

Margaret R. Davis, Kim M. Summers

Journal:

Year:

2012

Language:

english

File:

PDF, 1.17 MB

english, 2012

2

Cardiac teratogenicity in mouse maternal phenylketonuria: Defining phenotype parameters and genetic background influences

Nikki J. Seagraves, Kim L. McBride

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 2.16 MB

english, 2012

3

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease

Francis G. Blankenberg, Stephen L. Kinsman, Bruce H. Cohen, Michael L. Goris, Kenneth M. Spicer, Susan L. Perlman, Elliot J. Krane, Viktoria Kheifets, Martin Thoolen, Guy Miller, Gregory M. Enns

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.11 MB

english, 2012

4

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Jessica de Ruijter, Minke H. de Ru, Tom Wagemans, Lodewijk IJlst, Allan M. Lund, Paul J. Orchard, G. Bradley Schaefer, Frits A. Wijburg, Naomi van Vlies

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 265 KB

english, 2012

5

Congenital heart disease in maternal PKU

Harvey L. Levy

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 107 KB

english, 2012

6

Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease

Marco Spada, Davide Garelli, Chiara Riggi, Veronica Pagliardini, Susanna Lualdi, Mirella Filocamo, Francesco Porta

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 133 KB

english, 2012

7

RFT1-CDG in adult siblings with novel mutations

Nina Ondruskova, Katerina Vesela, Hana Hansikova, Martin Magner, Jiri Zeman, Tomas Honzik

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 136 KB

english, 2012

8

Association between ADIPOQ SNPs with plasma adiponectin and glucose homeostasis and adiposity phenotypes in the IRAS Family Study

S. Sandy An, Anthony J.G. Hanley, Julie T. Ziegler, W. Mark Brown, Steven M. Haffner, Jill M. Norris, Jerome I. Rotter, Xiuqing Guo, Y.-D. Ida Chen, Lynne E. Wagenknecht, Carl D. Langefeld, Donald W.

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 212 KB

english, 2012

9

Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients

Laura Rodríguez-Pascau, Claudio Toma, Judit Macías-Vidal, Mónica Cozar, Bru Cormand, Lilia Lykopoulou, Maria Josep Coll, Daniel Grinberg, Lluïsa Vilageliu

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 479 KB

english, 2012

10

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing

Jaeseung C. Kim, Ni-Chung Lee, Paul Wuh-Liang Hwu, Yin-Hsiu Chien, Somayyeh Fahiminiya, Jacek Majewski, David Watkins, David S. Rosenblatt

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 600 KB

english, 2012

11

Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome

Júlio C. Rocha, Francjan J. van Spronsen, Manuela F. Almeida, Gabriela Soares, Dulce Quelhas, Elisabete Ramos, João T. Guimarães, Nuno Borges

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 191 KB

english, 2012

12

Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects

Andrew A. Palladino, Jie Chen, Staci Kallish, Charles A. Stanley, Michael J. Bennett

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 506 KB

english, 2012

13

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

Coralie Haudry, Pascale de Lonlay, Valerie Malan, Christine Bole-Feysot, Zahra Assouline, Solenn Pruvost, Anais Brassier, Jean-Paul Bonnefont, Arnold Munnich, Agnès Rötig, Anne-Sophie Lebre

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 548 KB

english, 2012

14

Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate

Kaitlyn Kormanik, Heejung Kang, Dean Cuebas, Jerry Vockley, Al-Walid Mohsen

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 750 KB

english, 2012

15

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

Célia Nogueira, Carolina F.M. de Souza, Antonette Husny, Terry G.J. Derks, Filippo M. Santorelli, Laura Vilarinho

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 166 KB

english, 2012

16

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy

Terren K. Niethamer, Tal Yardeni, Petcharat Leoyklang, Carla Ciccone, Adrian Astiz-Martinez, Katherine Jacobs, Heidi M. Dorward, Patricia M. Zerfas, William A. Gahl, Marjan Huizing

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 927 KB

english, 2012

17

An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays

Jason L. Eccleston, Christopher Koh, Thomas C. Markello, William A. Gahl, Theo Heller

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 772 KB

english, 2012

18

Identification of mutations in the NUCB2/nesfatin gene in children with severe obesity

Doreen Zegers, Sigri Beckers, Fenna de Freitas, Karen Jennes, Jasmijn K. Van Camp, Ilse L. Mertens, Kim Van Hoorenbeeck, Raoul P. Rooman, Kristine N. Desager, Guy Massa, Luc F. Van Gaal, Wim Van Hul

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 417 KB

english, 2012

19

Peroxisome deficient aP2–Pex5 knockout mice display impaired white adipocyte and muscle function concomitant with reduced adrenergic tone

Katrin Martens, Astrid Bottelbergs, Annelies Peeters, Frank Jacobs, Marc Espeel, Peter Carmeliet, Paul P. Van Veldhoven, Myriam Baes

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.60 MB

english, 2012

20

No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene

Masahisa Kobayashi, Toya Ohashi, Takahiro Fukuda, Tomoyoshi Yanagisawa, Takayuki Inomata, Takashi Nagaoka, Teruo Kitagawa, Yoshikatsu Eto, Hiroyuki Ida, Eiji Kusano

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 908 KB

english, 2012

21

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Chitra Prasad, Marina I. Salvadori, C.A. Rupar

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 349 KB

english, 2012

22

Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy

Gerasimos Terzis, Argyro Krase, Giorgos Papadimas, Constantinos Papadopoulos, Stavros A. Kavouras, Panagiota Manta

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 265 KB

english, 2012

23

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 34 KB

english, 2012

24

Volume 107; Issue 4

Structure and function of the mammalian fibrillin gene family: Implications for human connective tissue diseases

Cardiac teratogenicity in mouse maternal phenylketonuria: Defining phenotype parameters and genetic background influences

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Congenital heart disease in maternal PKU

Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease

RFT1-CDG in adult siblings with novel mutations

Association between ADIPOQ SNPs with plasma adiponectin and glucose homeostasis and adiposity phenotypes in the IRAS Family Study

Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing

Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome

Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy

An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays

Identification of mutations in the NUCB2/nesfatin gene in children with severe obesity

Peroxisome deficient aP2–Pex5 knockout mice display impaired white adipocyte and muscle function concomitant with reduced adrenergic tone

No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy

Editorial Board

Table of Contents