Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene

Journal of Inherited Metabolic Disease

Volumn 38, Issue 5, 2015, Pages 855-861

  Wang, X L ^a   Li, C J ^a   Xing, Y ^a   Yang, Y H ^a   Jia, J P ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); BRANCHED CHAIN AMINO ACID AMINOTRANSFERASE; ISOLEUCINE; LEUCINE; PYRIDOXINE; TRIACYLGLYCEROL; VALINE; AMINOTRANSFERASE; BCAT2 PROTEIN, HUMAN; BRANCHED CHAIN AMINO ACID; PLACENTA PROTEIN;

ADULT; AMINO ACID METABOLISM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BABINSKI REFLEX; CASE REPORT; CEREBROSPINAL FLUID; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ACTIVITY; EYE FUNDUS; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; HEADACHE; HUMAN; HYPERLEUCINE ISOLEUCINEMIA; HYPERVALINEMIA; LIVER FUNCTION; LUMBAR PUNCTURE; MALE; MAPLE SYRUP URINE DISEASE; MEMORY DISORDER; METABOLIC DISORDER; MOLECULAR CLONING; MUSCLE STRENGTH; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PROTEIN CONTENT; PSYCHOLOGIC TEST; TENDON REFLEX; TRIACYLGLYCEROL BLOOD LEVEL; ULTRASOUND; WHITE MATTER; COMPLICATION; GENETICS; INTELLECTUAL IMPAIRMENT; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; SEIZURE; URINE;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACIDS, BRANCHED-CHAIN; BASE SEQUENCE; HUMANS; INTELLECTUAL DISABILITY; MALE; MAPLE SYRUP URINE DISEASE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PREGNANCY PROTEINS; SEIZURES; TRANSAMINASES; VALINE;

EID: 84940462224     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9814-z     Document Type: Article

References (20)

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