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Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency.

07:00 EST 10th November 2019 | BioPortfolio

Summary of "Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency."

To delineate the clinical and genetic features of two pedigrees affected with aromatic L-amino acid decarboxylase (AADC) deficiency.

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This article was published in the following journal.

Name: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
ISSN: 1003-9406
Pages: 1085-1089

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Medical and Biotech [MESH] Definitions

An enzyme group with broad specificity. The enzymes decarboxylate a range of aromatic amino acids including dihydroxyphenylalanine (DOPA DECARBOXYLASE), tryptophan, and hydroxytryptophan. EC 4.1.1.28.

Compounds and drugs that block or inhibit the enzymatic action of AROMATIC AMINO ACID DECARBOXYLASES. Pharmaceutical agents in this category are used in conjunction with LEVODOPA in order to slow its metabolism.

Amino acids containing an aromatic side chain.

One of the AROMATIC-L-AMINO-ACID DECARBOXYLASES, this enzyme is responsible for the conversion of dopa to dopamine. It is of clinical importance in the treatment of Parkinson's disease. EC 4.1.1.28.

Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., GENETIC ENGINEERING) is a central focus; laboratory methods used include TRANSFECTION and CLONING technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction.

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