Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency. [electronic resource]
- Brain & development Jun 2010
- 506-10 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1872-7131
10.1016/j.braindev.2009.05.004 doi
Amino Acid Metabolism, Inborn Errors--metabolism Aromatic-L-Amino-Acid Decarboxylases--blood Basal Ganglia--diagnostic imaging Brain--diagnostic imaging Brain Diseases, Metabolic, Inborn--diagnosis Child, Preschool DNA Mutational Analysis Developmental Disabilities--diagnosis Dystonia--diagnosis Female Glucose--metabolism Humans Infant Japan Magnetic Resonance Imaging Male Point Mutation Positron-Emission Tomography Prefrontal Cortex--diagnostic imaging Siblings