Zafeiriou, D I

Atypical and variable clinical presentation of glutaric aciduria type I. [electronic resource] - Neuropediatrics Dec 2000 - 303-6 p. digital

Publication Type: Case Reports; Journal Article

0174-304X

10.1055/s-2000-12943 doi


Amino Acid Metabolism, Inborn Errors--complications
Cerebral Cortex--pathology
Child
Child, Preschool
Female
Glutarates--urine
Glutaryl-CoA Dehydrogenase
Humans
Infant
Magnetic Resonance Imaging
Male
Nervous System Diseases--etiology
Oxidoreductases--genetics
Oxidoreductases Acting on CH-CH Group Donors
Phenotype
Point Mutation
Twins, Monozygotic