Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.

Matthews, P M

Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. [electronic resource] - Brain : a journal of neurology Jun 1994 - 435-43 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0006-8950

10.1093/brain/117.3.435 doi


Base Sequence
Female
Gene Expression Regulation, Enzymologic
Genetic Linkage
Humans
Infant
Infant, Newborn
Male
Molecular Sequence Data
Mutation
Pyruvate Dehydrogenase Complex--genetics
Pyruvate Dehydrogenase Complex Deficiency Disease--genetics
X Chromosome