Molecular Genetics and Metabolism

1

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

Ni-Chung Lee, Nelson Leung-Sang Tang, Yin-Hsiu Chien, Chun-An Chen, Sho-Juan Lin, Pao-Chin Chiu, Ai-Chu Huang, Wuh-Liang Hwu

Journal:

Year:

2010

Language:

english

File:

PDF, 262 KB

english, 2010

2

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)

Furhan Iqbal, Chike B. Item, Maria A. Vilaseca, Anil Jalan, Adolf Mühl, Maria L. Couce, Ana Duat, Maria P. Delgado, Joaquim Bosch, Alberto Puche, Jaume Campistol, Mercè Pineda, Olaf A. Bodamer

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 143 KB

english, 2010

3

False-positive results using a Gaucher diagnostic kit – RecTL and N370S

Jae Hyuk Choi, Arash Velayati, Barbara K. Stubblefield, Avi Orr-Urtreger, Ziv Gan-Or, Nahid Tayebi, Ellen Sidransky

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 157 KB

english, 2010

4

Why VRAC was not yet arrested

Friedrich P. Thinnes

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 105 KB

english, 2010

5

Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase

V. Valayannopoulos, N. Boddaert, V. Barbier, M. Le Merrer, C. Caillaud, P. de Lonlay

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 301 KB

english, 2010

6

Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets

Stéphane Cauchi, Silvia Del Guerra, Hélène Choquet, Valentina D’Aleo, Christopher J. Groves, Roberto Lupi, Mark I. McCarthy, Philippe Froguel, Piero Marchetti

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 342 KB

english, 2010

7

Clinical issues and frequent questions about biotinidase deficiency

Barry Wolf

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 180 KB

english, 2010

8

Identification and characterization of a novel homozygous deletion in the α-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)

Kristen J. Champion, Monica J. Basehore, Tim Wood, Anne Destrée, Pascal Vannuffel, Isabelle Maystadt

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 1.01 MB

english, 2010

9

Homogentisic acid interference in routine urine creatinine determination

Perry R. Loken, Mark J. Magera, Wendy Introne, Silvia Tortorelli, Dimitar Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Kimiyo Raymond

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 145 KB

english, 2010

10

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Toshiyuki Fukao, Hoan Thi Nguyen, Nhan Thu Nguyen, Dung Chi Vu, Ngoc Thi Bich Can, Anh Thi Van Pham, Khanh Ngoc Nguyen, Hironori Kobayashi, Yuki Hasegawa, Thao Phuong Bui, Kary E. Niezen-Koning, Ronal

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 369 KB

english, 2010

11

Maternally inherited hearing loss is associated with the novel mitochondrial tRNASer(UCN) 7505T>C mutation in a Han Chinese family

Xiaowen Tang, Ronghua Li, Jing Zheng, Qin Cai, Ting Zhang, Shasha Gong, Wuwei Zheng, Xiumei He, Yi Zhu, Ling Xue, Aifen Yang, Li Yang, Jianxin Lu, Min-Xin Guan

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 1.22 MB

english, 2010

12

Inborn Errors of Metabolism: The metabolome is our world. Presidential address for the 11th International Congress of Inborn Errors of Metabolism (ICIEM)

Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 197 KB

english, 2010

13

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

S. Mercimek-Mahmutoglu, D. Moeslinger, J. Häberle, K. Engel, M. Herle, M.W. Strobl, S. Scheibenreiter, A. Muehl, S. Stöckler-Ipsiroglu

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 151 KB

english, 2010

14

Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case

Hiroshi Kobayashi, Yohta Shimada, Masahiro Ikegami, Toshinao Kawai, Ken Sakurai, Takashi Urashima, Masatoshi Ijima, Masako Fujiwara, Eiko Kaneshiro, Toya Ohashi, Yoshikatsu Eto, Keiko Ishigaki, Makiko

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 828 KB

english, 2010

15

Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA

Murali D. Bashyam, Ajay K. Chaudhary, E. Chandrakanth Reddy, A. Radha Rama Devi, G.R. Savithri, R. Ratheesh, Leena Bashyam, E. Mahesh, Dity Sen, Ratna Puri, Inder C. Verma, Sheela Nampoothiri, Sunitha

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 245 KB

english, 2010

16

Genes regulated by Nkx2-3 in siRNA-mediated knockdown B cells: Implication of endothelin-1 in inflammatory bowel disease

Wei Yu, Zhenwu Lin, John P. Hegarty, Gerrit John, Xi Chen, Pieter W. Faber, Ashley A. Kelly, Yunhua Wang, Lisa S. Poritz, Stefan Schreiber, Walter A. Koltun

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 468 KB

english, 2010

17

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3

Esther Leshinsky-Silver, Dorit Lev, Gustavo Malinger, Daniel Shapira, Sarit Cohen, Tally Lerman-Sagie, Ann Saada

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 709 KB

english, 2010

18

Combined deficiency of peroxisomal β-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia

Olga Krysko, Astrid Bottelbergs, Paul Van Veldhoven, Myriam Baes

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 414 KB

english, 2010

19

Methylation of TFAM gene promoter in peripheral white blood cells is associated with insulin resistance in adolescents

Carolina Gemma, Silvia Sookoian, Guillermo Dieuzeide, Silvia I. García, Tomas Fernández Gianotti, Claudio D. González, Carlos J. Pirola

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 278 KB

english, 2010

20

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder

D.S. Froese, S. Healy, M. McDonald, G. Kochan, U. Oppermann, F.H. Niesen, R.A. Gravel

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 680 KB

english, 2010

21

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 35 KB

english, 2010

22

Volume 100; Issue 1

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)

False-positive results using a Gaucher diagnostic kit – RecTL and N370S

Why VRAC was not yet arrested

Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase

Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets

Clinical issues and frequent questions about biotinidase deficiency

Identification and characterization of a novel homozygous deletion in the α-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)

Homogentisic acid interference in routine urine creatinine determination

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Maternally inherited hearing loss is associated with the novel mitochondrial tRNASer(UCN) 7505T>C mutation in a Han Chinese family

Inborn Errors of Metabolism: The metabolome is our world. Presidential address for the 11th International Congress of Inborn Errors of Metabolism (ICIEM)

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case

Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA

Genes regulated by Nkx2-3 in siRNA-mediated knockdown B cells: Implication of endothelin-1 in inflammatory bowel disease

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3

Combined deficiency of peroxisomal β-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia

Methylation of TFAM gene promoter in peripheral white blood cells is associated with insulin resistance in adolescents

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder

Cover 2 / Ed. Board

Table of Contents