Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-1076-1
Reference21 articles.
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2. Abeling NG, van Gennip AH, Barth PG, van Cruchten A, Westra M, Wijburg FA (1998) Aromatic l-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings. J Inherit Metab Dis 21: 240–242. doi: 10.1023/A:1005307919767 .
3. Anselm IA, Darras BT (2006) Catecholamine toxicity in aromatic l-amino acid decarboxylase deficiency. Pediatr Neurol 35(2): 142–144. doi: 10.1016/j.pediatrneurol.2006.01.008 .
4. Brautigam C, Wevers R, Hyland K, etal (2000) The influence of l-dopa on methylation capacity in aromatic l-amino acid decarboxylase deficiency. J Inherit Metab Dis 23: 321–324. doi: 10.1023/A:1005698223186 .
5. Brautigam C, Hyland K, Wevers R, etal (2002) Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic l-amino acid decarboxylase deficiency. Neuropediatrics 33: 113–117. doi: 10.1055/s-2002-33673 .
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