نتایج جستجو برای: urine organic acid analysis

تعداد نتایج: 3639936  

Journal: :reports of biochemistry and molecular biology 0
fatemeh keyfi immunobiochemistry lab, immunology research center, school of medicine, mashhad university of medical sciences, mashhad, iran - pardis clinical and genetic laboratory, mashhad, iran saeed talebi department of medical genetics, faculty of medicine, tehran university of medical sciences, tehran, iran abdol-reza varasteh tel: +98 51-38 44 20 16; fax: +98 51- 3845 22 36

methylmalonic acidemia (mma) is usually caused by a deficiency of the enzyme methylmalonyl-coa mutase (mcm), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cbla, cblb, cblc, cblf, cbld, and cblx), or deficiency of the enzyme methylmalonyl-coa epimerase. a comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...

Journal: :Clinical chemistry 1980
K Tanaka A West-Dull D G Hine T B Lynn T Lowe

A gas-chromatographic method for urinary organic acid analysis is described, designed to be used routinely for the diagnosis of organic aciduria. It involves extraction of urine with ethyl acetate, dehydration of extract residues, and trimethylsilylation. Organic acids are identified by using an extensive list of retention indices published in the accompanying paper (this issue). Quantitative v...

Journal: :British journal of industrial medicine 1969
M Ikeda H Ohtsuji

Ikeda, M., and Ohtsuji, H. (1969). Brit. J. industr. Med., 26, 162-164. Hippuric acid, phenol, and trichloroacetic acid levels in the urine of Japanese subjects with no known exposure to organic solvents. Urine samples from 36 male and 30 female university students and 31 male factory workers with no known exposure to industrial organic solvents were analysed for hippuric acid, phenol, and tric...

Journal: :iranian journal of child neurology 0
shadab salehpour assistant professor of pediatric endocrinology and fellowship of bone and inherited metabolic disorders, shahid beheshti university of medical sciences, tehan, iran

a clinical presentation of a metabolic disorder, often first seen in infants who present with poor feeding, vomiting, tachypnea, acidosis, hyperammonemia, ketosis, ketonuria, irritability, and convulsions or hypotonia and lethargy, findings that are otherwise suggestive of neonatal sepsis diseases with oa isovaleric and propionic acidemias, maple syrup urine disease, medium chain acyl dehydroge...

Journal: :The Journal of Applied Laboratory Medicine 2020

2013
MinYan Jiang Li Liu HuiFen Mei XiuZhen Li Jing Cheng YanNa Cai Wen Zhang XiaoJian Mao ZhiKun Lu

Results We diagnosed 148 cases of IEM by urine GC-MS analysis, including 97 cases of organic acid disorders, 41 cases of amion acid disorders and 10 cases of fatty acid oxidative disorders. Methylmalonic aciduria (MMA) was most common (48 cases), followed by urea cycle disorder (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), multiple carboxylase deficiency (8 cases), glut...

2012
Aya Kanbara Yoshisuke Miura Hideyuki Hyogo Kazuaki Chayama Issei Seyama

BACKGROUND The finding reported in a previous paper - alkalization of urine facilitates uric acid excretion - is contradictory to what one might expect to occur: because food materials for the alkalization of urine contain fewer purine bodies than those for acidification, less uric acid in alkaline urine should have been excreted than in acid urine. To make clear what component of uric acid exc...

2015
Michael Jason Bishop Michael Bishop Lucjan Strekowski

A rapid and accurate quantitative method was developed and validated for the analysis of four urinary organic acids with nitrogen containing functional groups, formiminoglutamic acid (FIGLU), pyroglutamic acid (PYRGLU), 5-hydroxyindoleacetic acid (5-HIAA), and 2-methylhippuric acid (2-METHIP) by liquid chromatography tandem mass spectrometry (LC/MS/MS). The chromatography was developed using a ...

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