Funk, Christopher B R

Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. [electronic resource] - Brain : a journal of neurology Apr 2005 - 711-22 p. digital

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

1460-2156

10.1093/brain/awh401 doi


Adolescent
Adult
Aging--pathology
Amino Acid Metabolism, Inborn Errors--complications
Atrophy
Basal Ganglia Diseases--etiology
Brain--diagnostic imaging
Cell Count
Child
Child, Preschool
Corpus Striatum--pathology
Fatal Outcome
Female
Glutarates--blood
Glutaryl-CoA Dehydrogenase
Humans
Infant
Male
Mutation
Neurons--pathology
Oxidoreductases Acting on CH-CH Group Donors--genetics
RNA, Messenger--genetics
Retrospective Studies
Tomography, X-Ray Computed