Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. [electronic resource]
Producer: 20050420Description: 711-22 p. digitalISSN:- 1460-2156
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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