Biogenic amines

Laboratory Guide to the Methods in Biochemical Genetics

Volumn , Issue , 2008, Pages 703-715

  Heales, Simon J R ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 70350414091     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-76698-8_29     Document Type: Chapter

References (7)

1. Blau N, Thony B, Cotton RGH, Hyland K (2001) Disorders of tetrahydrobiopterin and related biogenic amine. In: Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, Kinzler W, Vogelstein B (eds) The Metabolic and Molecular Bases of Inherited Disease (8th edn). McGraw-Hill, New York, pp 1725-1776
2. Brautigam C, Wevers RA, Jansen RJT, Smeitink JAM, et al (1998) Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem 44:1897-1904
3. Hyland K (2003) The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann Neurol 54:S13-17
4. Hyland K, Clayton P (1992) Aromatic amino acid decarboxylase deficiency: diagnostic methodology. Clin Chem 38:2405-2410
5. Hyland K, Surtees RAH, Rodeck C, Clayton PT (1992) Aromatic l amino acid decarboxylase deficiency: clinical features, diagnosis and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 42:1980-1988
6. Hyland K, Surtees RAH, Heales SJR, Bowron A, et al (1993) Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. Pediatr Res 34:10-14
7. Mills PB, Surtees RAH, Champion MP, Beesley CE, et al (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet 14:1077-1086