Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?-Reference-Cited by-同舟云学术

Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

Published:2014 Issue: Volume: Page:
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Leuzzi Vincenzo,Mastrangelo Mario,Polizzi Agata,Artiola Cristiana,van Kuilenburg André B. P.,Carducci Carla,Ruggieri Martino,Barone Rita,Tavazzi Barbara,Abeling Nico G. G. M.,Zoetekouw Lida,Sofia Vito,Zappia Mario,Carducci Claudia

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2014_295

Reference18 articles.

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2. Chang YT, Sharma R, Marsh JL et al (2004) Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. Ann Neurol 55:435–438

3. Fiumara A, Bräutigam C, Hyland K et al (2002) Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. Neuropediatrics 33:203–208

4. Hartleb J, Eue S, Kemper A (2003) Simultaneous analysis of homovanillic acid, 5-hydroxyindoleacetic acid, 3-methoxy-4-hydroxy-phenylethylene glycol and vanilmandelic acid in plasma from alcoholics by high performance liquid chromatography with electrochemical detection. J Chrom 622:161–171

5. Hyland K, Clayton PT (1992) Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology. Clin Chem 38(12):2405–2410

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