芳香族L-氨基酸脱羧酶缺乏症：一例临床表现轻微且实验室检查结果意外的新病例。 - Suppr

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超能文献

Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings.

作者信息

Abeling N G, van Gennip A H, Barth P G, van Cruchten A, Westra M, Wijburg F A

机构信息

University of Amsterdam, Department of Clinical Chemistry, The Netherlands.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):240-2. doi: 10.1023/a:1005307919767.

DOI:10.1023/a:1005307919767

PMID:9686366

Abstract

摘要

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本文引用的文献

Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorometric detection.采用高效液相色谱-荧光检测法同时测定尿液中的儿茶酚胺和甲氧基肾上腺素。

Clin Chim Acta. 1984 Feb 28;137(2):211-26. doi: 10.1016/0009-8981(84)90181-5.

Aromatic amino acid decarboxylase deficiency in twins.

J Inherit Metab Dis. 1990;13(3):301-4. doi: 10.1007/BF01799380.

Simultaneous determination of acidic 3,4-dihydroxyphenylalanine metabolites and 5-hydroxyindole-3-acetic acid in urine by high-performance liquid chromatography.高效液相色谱法同时测定尿液中酸性3,4-二羟基苯丙氨酸代谢物和5-羟基吲哚-3-乙酸

Clin Chem. 1990 Oct;36(10):1834-7.

Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.

Clin Chem. 1992 Dec;38(12):2405-10.

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