Molecular Genetics and Metabolism

1

Early cognitive development in children with infantile Pompe disease

Gail A. Spiridigliozzi, James H. Heller, Laura E. Case, Harrison N. Jones, Priya S. Kishnani

Journal:

Year:

2012

Language:

english

File:

PDF, 321 KB

english, 2012

2

Association study of common variants in the sFRP1 gene region and parameters of bone strength and body composition in two independent healthy Caucasian male cohorts

Eveline Boudin, Elke Piters, Erik Fransen, Torben Leo Nielsen, Marianne Andersen, Greet Roef, Youri Taes, Kim Brixen, Wim Van Hul

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 239 KB

english, 2012

3

Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: Decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk

Kenneth N. Maclean, Hua Jiang, Lori S. Greiner, Robert H. Allen, Sally P. Stabler

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 273 KB

english, 2012

4

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

Clara D.M. van Karnebeek, Sylvia Stockler

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 588 KB

english, 2012

5

S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report

Mahoko Furujo, Masako Kinoshita, Masayoshi Nagao, Toshihide Kubo

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 566 KB

english, 2012

6

Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy

Michael J. Goldenthal, Teddy Kuruvilla, Shirish Damle, Leon Salganicoff, Sudip Sheth, Nidhi Shah, Harold Marks, Divya Khurana, Ignacio Valencia, Agustin Legido

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 391 KB

english, 2012

7

Dyrk1a activates antioxidant NQO1 expression through an ERK1/2–Nrf2 dependent mechanism

Christophe Noll, Asma Tlili, Clémentine Ripoll, Ludovic Mallet, Jean-Louis Paul, Jean-Maurice Delabar, Nathalie Janel

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 367 KB

english, 2012

8

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

Yana Sandlers, Ann B. Moser, Walter C. Hubbard, Lisa E. Kratz, Richard O. Jones, Gerald V. Raymond

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 906 KB

english, 2012

9

Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16

S. Catarzi, L. Giunti, F. Papadia, O. Gabrielli, R. Guerrini, M.A. Donati, M. Genuardi, A. Morrone

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 435 KB

english, 2012

10

Genetic association between WNT10B polymorphisms and obesity in a Belgian case–control population is restricted to males

J.K. Van Camp, S. Beckers, D. Zegers, A. Verrijken, L.F. Van Gaal, W. Van Hul

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 245 KB

english, 2012

11

Genetic contribution to C-reactive protein levels in severe obesity

Geneviève Faucher, Frédéric Guénard, Luigi Bouchard, Véronique Garneau, Valérie Turcot, Alain Houde, André Tchernof, Jean Bergeron, Yves Deshaies, Frédéric-Simon Hould, Stéfane Lebel, Picard Marceau,

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 278 KB

english, 2012

12

Fanconi–Bickel syndrome: GLUT2 mutations associated with a mild phenotype

Sarah Catharina Grünert, Karl Otfried Schwab, Martin Pohl, Jörn Oliver Sass, René Santer

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 813 KB

english, 2012

13

ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations

Anna Wuolikainen, Peter M. Andersen, Thomas Moritz, Stefan L. Marklund, Henrik Antti

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 950 KB

english, 2012

14

Is E326K glucocerebrosidase a polymorphic or pathological variant?

Benjamin Liou, Gregory A. Grabowski

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 110 KB

english, 2012

15

Enzymatic activity and genetic variation in SCD1 modulate the relationship between fatty acids and inflammation

Carolina Stryjecki, Kaitlin Roke, Shannon Clarke, Daiva Nielsen, Alaa Badawi, Ahmed El-Sohemy, David W.L. Ma, David M. Mutch

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 551 KB

english, 2012

16

Diet in phenylketonuria: A snapshot of special dietary costs and reimbursement systems in 10 international centers

A. Belanger-Quintana, K. Dokoupil, H. Gokmen-Ozel, A.M. Lammardo, A. MacDonald, K. Motzfeldt, M. Nowacka, M. Robert, M. van Rijn, K. Ahring

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 266 KB

english, 2012

17

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Valerio Leoni, Laura Strittmatter, Giovanna Zorzi, Federica Zibordi, Sabrina Dusi, Barbara Garavaglia, Paola Venco, Claudio Caccia, Amanda L. Souza, Amy Deik, Clary B. Clish, Marco Rimoldi, Emilio Ciu

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 926 KB

english, 2012

18

Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry

William R. Wilcox, Gabor E. Linthorst, Dominique P. Germain, Ulla Feldt-Rasmussen, Stephen Waldek, Susan M. Richards, Dana Beitner-Johnson, Marta Cizmarik, J. Alexander Cole, Wytske Kingma, David G. W

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 393 KB

english, 2012

19

Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI)

Maaria Tringham, Johanna Kurko, Laura Tanner, Johannes Tuikkala, Olli S. Nevalainen, Harri Niinikoski, Kirsti Näntö-Salonen, Marja Hietala, Olli Simell, Juha Mykkänen

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 214 KB

english, 2012

20

Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease

Tommaso Fasano, Livia Pisciotta, Letizia Bocchi, Ornella Guardamagna, Paola Assandro, Claudio Rabacchi, Paolo Zanoni, Mirella Filocamo, Stefano Bertolini, Sebastiano Calandra

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 935 KB

english, 2012

21

A novel splicing mutation causes analbuminemia in a Portuguese boy

Gianluca Caridi, Monica Dagnino, Marco Di Duca, Helena Pinto, Maria do Céu Espinheira, António Guerra, Susana Fernandes, Monica Campagnoli, Monica Galliano, Lorenzo Minchiotti

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 488 KB

english, 2012

22

Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease

Beom Hee Lee, Dae-Yeon Kim, Gu-Hwan Kim, Kyung-Ja Cho, Hye-Kyung Yoon, Han-Wook Yoo

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 622 KB

english, 2012

23

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots

Adviye A. Tolun, Carrie Graham, Qun Shi, Ramakrishna S. Sista, Tong Wang, Allen E. Eckhardt, Vamsee K. Pamula, David S. Millington, Deeksha S. Bali

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 227 KB

english, 2012

24

Sample blank subtraction outreachs hemoglobin interferences in flurorometric methods for DBS

Eser Y. Sozmen

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 200 KB

english, 2012

25

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering

Thomas C. Markello, Ted Han, Hannah Carlson-Donohoe, Chidi Ahaghotu, Ursula Harper, MaryPat Jones, Settara Chandrasekharappa, Yair Anikster, David R. Adams, NISC Comparative Sequencing Program, Willia

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.06 MB

english, 2012

26

Population variability in CD38 activity: Correlation with age and significant effect of TNF-α -308G > A and CD38 184C > G SNPs

Valeria Polzonetti, Francesco M. Carpi, Daniela Micozzi, Stefania Pucciarelli, Silvia Vincenzetti, Valerio Napolioni

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 338 KB

english, 2012

27

Impact of enzyme activity assay on indication in liver transplantation for ornithine transcarbamylase deficiency

Taiichi Wakiya, Yukihiro Sanada, Taizen Urahashi, Yoshiyuki Ihara, Naoya Yamada, Noriki Okada, Kentaro Ushijima, Shinya Otomo, Koichi Sakamoto, Kei Murayama, Masaki Takayanagi, Kenichi Hakamada, Yoshi

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 259 KB

english, 2012

28

Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in patients treated with Tacrolimus

Beatriz Tavira, Eliecer Coto, Armando Torres, Carmen Díaz-Corte, Beatriz Díaz-Molina, Francisco Ortega, Manuel Arias, Juan M. Díaz, Rafael Selgas, Carlos López-Larrea, Marta Ruiz-Ortega, Alberto Ortiz

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 147 KB

english, 2012

29

SIMD statement on investigational new drugs for rare disease therapies

Nicola Longo

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 85 KB

english, 2012

30

Program for SIMD annual meeting: March 31–April 3, 2012, The Westin Charlotte, Charlotte, NC

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.42 MB

english, 2012

31

Abstract Index

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 115 KB

english, 2012

33

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 30 KB

english, 2012

Volume 105; Issue 3

Early cognitive development in children with infantile Pompe disease

Association study of common variants in the sFRP1 gene region and parameters of bone strength and body composition in two independent healthy Caucasian male cohorts

Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: Decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report

Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy

Dyrk1a activates antioxidant NQO1 expression through an ERK1/2–Nrf2 dependent mechanism

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16

Genetic association between WNT10B polymorphisms and obesity in a Belgian case–control population is restricted to males

Genetic contribution to C-reactive protein levels in severe obesity

Fanconi–Bickel syndrome: GLUT2 mutations associated with a mild phenotype

ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations

Is E326K glucocerebrosidase a polymorphic or pathological variant?

Enzymatic activity and genetic variation in SCD1 modulate the relationship between fatty acids and inflammation

Diet in phenylketonuria: A snapshot of special dietary costs and reimbursement systems in 10 international centers

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry

Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI)

Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease

A novel splicing mutation causes analbuminemia in a Portuguese boy

Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots

Sample blank subtraction outreachs hemoglobin interferences in flurorometric methods for DBS

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering

Population variability in CD38 activity: Correlation with age and significant effect of TNF-α -308G > A and CD38 184C > G SNPs

Impact of enzyme activity assay on indication in liver transplantation for ornithine transcarbamylase deficiency

Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in patients treated with Tacrolimus

SIMD statement on investigational new drugs for rare disease therapies

Program for SIMD annual meeting: March 31–April 3, 2012, The Westin Charlotte, Charlotte, NC

Table of Contents

Abstract Index

Editorial Board