Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina

Author:

Basinger Alice A.,Booker Jessica K.,Frazier Dianne M.,Koeberl Dwight D.,Sullivan Jennifer A.,Muenzer Joseph

Publisher

Elsevier BV

Subject

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

Reference15 articles.

1. Glutaric aciduria type I: from clinical, biochemical, and molecular diversity to successful therapy;Hoffmann;J. Inherit. Metab. Dis.,1999

2. Neuropathological, biochemical, and molecular findings in a glutaric acidemia type 1 cohort;Funk;Brain,2005

3. Type I glutaric acidemia, part I: natural history of 77 patients;Strauss;Am. J. Med. Genet, Part C (Semin. Med. Genet.),2003

4. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency;Christensen;J. Inherit. Metab. Dis.,2004

5. Gene structure and mutations of glutaryl-enzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish;Biery;Am. J. Hum. Genet.,1996

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