Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

Author:

Busquets Christiane,Soriano Mercedes,de Almeida Isabel Tavares,Garavaglia Barbara,Rimoldi Marco,Rivera Isabel,Uziel Graziella,Cabral Aguinaldo,Coll M.Josep,Ribes Antonia

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference10 articles.

1. Organic acidemias due to defects in lysine oxidation: 2-Ketoadipic acidemia and glutaric acidemia;Goodman,1995

2. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations;Goodman;Hum Mutat,1998

3. Mutation analysis in glutaric aciduria type I;Zschocke;J Med Genet,2000

4. Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically and biochemically distinct;Busquets;Pediatr Res,2000

5. A G-to-T transversion at the +5 position of intron 1 in the glutaryl-CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I;Greenberg;Hum Mol Genet,1995

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