Molecular Genetics and Metabolism

1

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

R Ensenauer, T Thiel, K.O Schwab, U Tacke, S Stöckler-Ipsiroglu, A Schulze, J Hennig, W Lehnert

Journal:

Year:

2004

Language:

english

File:

PDF, 353 KB

english, 2004

2

Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse

Jeffrey P Khoo, Taija Nicoli, Nicholas J Alp, Janice Fullerton, Jonathan Flint, Keith M Channon

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 321 KB

english, 2004

3

Genetic variation in the multifunctional transcription factor Yy1 and type 1 diabetes mellitus in the BB rat

Nora Klöting, Ingrid Klöting

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 385 KB

english, 2004

4

Searching for genomic variants in IGF2 and CDKN1C in Silver–Russell syndrome patients

Caitriona Obermann, Esther Meyer, Sebastian Prager, Jürgen Tomiuk, Hartmut A Wollmann, Thomas Eggermann

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 328 KB

english, 2004

5

Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects

Angela Arias, Judit Garcia-Villoria, Antonia Ribes

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 220 KB

english, 2004

6

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

Antonella Peduto, Matthias R Baumgartner, Nanda M Verhoeven, Daniel Rabier, Marco Spada, Marie-Cecile Nassogne, Bwee-Tien T Poll-The, Giovanni Bonetti, Cornelis Jakobs, Jean-Marie Saudubray

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 462 KB

english, 2004

7

Neuropathology provides clues to the pathophysiology of Gaucher disease

Kondi Wong, Ellen Sidransky, Ajay Verma, Tonghui Mixon, Glenn D Sandberg, Laura K Wakefield, Alan Morrison, Alicia Lwin, Carlos Colegial, John M Allman, Raphael Schiffmann

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 1.91 MB

english, 2004

8

Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder

Takanori Kawamoto, Yukio Horikawa, Takeshi Tanaka, Noriko Kabe, Jun Takeda, Masahiko Mikuni

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 682 KB

english, 2004

9

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

Lı́gia S Almeida, Nanda M Verhoeven, Birthe Roos, Carla Valongo, Maria Luis Cardoso, Laura Vilarinho, Gajja S Salomons, Cornelis Jakobs

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 391 KB

english, 2004

10

Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism

Jojanneke H.J Huck, Birthe Roos, Cornelis Jakobs, Marjo S van der Knaap, Nanda M Verhoeven

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 322 KB

english, 2004

11

Rare disease clinical research center for inborn errors of urea synthesis and related disorders

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 76 KB

english, 2004

12

SIMD Announcement

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 76 KB

english, 2004

13

Join the SIMD

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 94 KB

english, 2004

14

IFC - Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 294 KB

english, 2004

15

Volume 82; Issue 3

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse

Genetic variation in the multifunctional transcription factor Yy1 and type 1 diabetes mellitus in the BB rat

Searching for genomic variants in IGF2 and CDKN1C in Silver–Russell syndrome patients

Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

Neuropathology provides clues to the pathophysiology of Gaucher disease

Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism

Rare disease clinical research center for inborn errors of urea synthesis and related disorders

SIMD Announcement

Join the SIMD

IFC - Ed. Board

Table of Contents