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To delineate the clinical and genetic features of two pedigrees affected with aromatic L-amino acid decarboxylase (AADC) deficiency.
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
To explore the genetic etiology of two pedigrees affected with congenital arthrogryposis.
To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease.
To detect EXT1 and EXT2 gene mutations in two pedigrees affected with hereditary multiple exostosis (HME).
Many types of non-covalent interactions give rise to a protein's natural structure and function. One such interaction involves an aromatic amino acid (phenylalanine (Phe), tryptophan (Trp), or tyrosin...
To identify pathogenic variations of EXT1 and EXT2 genes in two Chinese pedigrees affected with hereditary multiple exostosis (HME).
This research may explain whether a shortage of three special compounds called aromatic amino acids is responsible for the severe illness and high death rate of children with the kwashiork...
Phenylalanine and tyrosine are aromatic amino acids that people need to obtain in their diets. Amino acids are the building blocks for protein, are are therefore required to form tissues i...
This clinical trial expansion is to offer patients, who are not enrolled into the Phase I/II trial, a chance of treatment, to extend the experience in this gene therapy, and to increase th...
To determine the genetics and epidemiology of different types of early familial coronary disease. Accurate markers of major gene syndromes for early coronary disease were identified using...
This is study to investigate the plasma free amino acids profile in patients with decompensated liver cirrhosis and hepatic encephalopathy and its relation to the nutritional state of thes...
An enzyme group with broad specificity. The enzymes decarboxylate a range of aromatic amino acids including dihydroxyphenylalanine (DOPA DECARBOXYLASE), tryptophan, and hydroxytryptophan. EC 220.127.116.11.
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 18.104.22.168.
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.