Molecular Genetics and Metabolism

1

Variants in the interleukin 6 receptor gene are associated with obesity in Pima Indians

Johanna K Wolford, Peter B Colligan, Jonathan D Gruber, Clifton Bogardus

Journal:

Year:

2003

Language:

english

File:

PDF, 104 KB

english, 2003

2

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)

Johannes Häberle, Silke Pauli, Eva Schmidt, Barbara Schulze-Eilfing, Christoph Berning, Hans Georg Koch

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 86 KB

english, 2003

3

Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy

Natalia V Olkhovich, Noboru Takamura, Natalia A Pichkur, Natalia G Gorovenko, Kiyoshi Aoyagi, Shunichi Yamashita

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 180 KB

english, 2003

4

Increased expression of manganese-superoxide dismutase in fibroblasts of patients with CPEO syndrome

Ching-You Lu, Edward K Wang, Hsin-Chen Lee, Huey-Jen Tsay, Yau-Huei Wei

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 259 KB

english, 2003

5

Plasma total homocysteine concentrations in adults with growth hormone (GH) deficiency: effects of GH replacement

Krzysztof C Lewandowski, Robert D Murray, J Drzewoski, Chris J O’Callaghan, L Czupryniak, Edward W Hillhouse, Stephen M Shalet, Harpal S Randeva

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 158 KB

english, 2003

6

Galactitol and galactonate in red blood cells of galactosemic patients

Claire T Yager, Jie Chen, Robert Reynolds, Stanton Segal

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 121 KB

english, 2003

7

Association of polymorphisms of the osteoprotegerin gene with bone mineral density in Japanese women but not men

Yoshiji Yamada, Fujiko Ando, Naoakira Niino, Hiroshi Shimokata

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 106 KB

english, 2003

8

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria

L.R Desviat, C Pérez-Cerdá, B Pérez, J Esparza-Gordillo, P Rodrı́guez-Pombo, M.A Peñalva, S Rodrı́guez de Córdoba, M Ugarte

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 231 KB

english, 2003

9

776C > G polymorphism of the transcobalamin II gene as a risk factor for spina bifida

Jacek J Pietrzyk, Miroslaw Bik-Multanowski

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 56 KB

english, 2003

10

Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma

Roseline Froissart, Nathalie Guffon, Marie T Vanier, Robert J Desnick, Irene Maire

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 177 KB

english, 2003

11

Variants in the PPARγ gene affect fatty acid and glycerol metabolism in familial combined hyperlipidemia

Petra M.H Eurlings, Carla J.H van der Kallen, Vicky M.M.-J Vermeulen, Tjerk W.A de Bruin

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 104 KB

english, 2003

12

Prognostic value of regional cerebral metabolism in patients undergoing dementia evaluation: comparison to a quantifying parameter of subsequent cognitive performance and to prognostic assessment without PET

Daniel H.S Silverman, Co T Truong, Shanna K Kim, Carol Y Chang, Wei Chen, Arthur P Kowell, Jeffrey L Cummings, Johannes Czernin, Gary W Small, Michael E Phelps

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 125 KB

english, 2003

13

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

Keiko Kobayashi, Yao Bang Lu, Meng Xian Li, Ikumi Nishi, Kwang-Jen Hsiao, Kyuchul Choeh, Yanling Yang, Wuh-Liang Hwu, Juergen K.V Reichardt, Ferdinando Palmieri, Yoshiyuki Okano, Takeyori Saheki

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 85 KB

english, 2003

14

Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts

Sietske Hogenboom, Ronald J.A Wanders, Hans R Waterham

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 353 KB

english, 2003

15

IFC-Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 319 KB

english, 2003

16

Volume 80; Issue 3

Variants in the interleukin 6 receptor gene are associated with obesity in Pima Indians

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)

Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy

Increased expression of manganese-superoxide dismutase in fibroblasts of patients with CPEO syndrome

Plasma total homocysteine concentrations in adults with growth hormone (GH) deficiency: effects of GH replacement

Galactitol and galactonate in red blood cells of galactosemic patients

Association of polymorphisms of the osteoprotegerin gene with bone mineral density in Japanese women but not men

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria

776C > G polymorphism of the transcobalamin II gene as a risk factor for spina bifida

Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma

Variants in the PPARγ gene affect fatty acid and glycerol metabolism in familial combined hyperlipidemia

Prognostic value of regional cerebral metabolism in patients undergoing dementia evaluation: comparison to a quantifying parameter of subsequent cognitive performance and to prognostic assessment without PET

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts

IFC-Ed. Board

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