Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency. [electronic resource]
Producer: 20100805Description: 506-10 p. digitalISSN:- 1872-7131
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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