نتایج جستجو برای: urea cycle disorders

تعداد نتایج: 967162  

2006
Farooq Azam

We studied urea decomposition in depth profiles at stations in the Southern California Bight. Urea decomposition was measured by adding I4C urea as a tracer. In situ urea concentration was measured by the urease method; we, therefore, studied the decomposition of only the urease-sensitive fraction of the urea pool. In the mesopelagic zone the decomposition of urea, which was mainly due to the b...

Journal: :The Journal of biological chemistry 1963
R T SCHIMKE

It has been previously demonstrated that the hepatic level of each enzyme concerned with the biosynthesis of urea in the rat, i.e. carbamyl phosphate synthetase, ornithine transcarbamylase, argininosuccinate synthetase, argininosuccinase, and arginase (see Ratner (1) and Cohen and Brown (2) for discussions of the enzymatic steps of urea biosynthesis and general problems of urea synthesis), bear...

Journal: :JAMA pediatrics 2015
Hilary J Vernon

Inborn errors of metabolism (IEMs) are a large class of genetic disorders characterized by disruption of cellular biochemical functions. Although individual IEMs are rare, collectively they represent a large and diverse class of genetic conditions, with new disorders and disease mechanisms being described regularly. Advances in the understanding of the molecular and biochemical etiologies of ma...

2016
Rajendra Kumar Sen

Sir,?In reply to Capt. T. D. W. Gillespie's inquiry in the Novtmber issue of the I. M. Q. as to the quantity of quinine urea hydrochloride to be injected hypodermically to produce local anaesthesia, I may say as follows: In the New York Medical Journal (1915, II, 708) Amster recommends quin-urea hydro as a local anaesthetic. He has performed 200 severe operations with a freshly prepared solutio...

2015
Chiung-Mei Chen Yow-Sien Lin Yih-Ru Wu Pei Chen Fuu-Jen Tsai Chueh-Lien Yang Ya-Tzu Tsao Wen Chang I-Shan Hsieh Yijuang Chern Bing-Wen Soong Pedro Gonzalez-Alegre

Huntington's disease (HD) is a neurodegenerative disorder caused by the huntingtin (HTT) gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues. We previously reported that mutant Huntingtin (mHTT) exists in the liver and causes urea cycle deficiency. A low protein diet (17%) restores urea cycle activity and ameliorates symp...

2016
Atindra Nath Sen

our doubts in most cases. I cannot say it is better than the globulin test. The advantage, however, is that the result of the test is visible in a few minutes and quite distinctive. The procedure is simple and can be carried out by anyone in the mofussil. Technique.?All my cases were tried with a standard solution of urea stibamine, 0.1 gram dissolved in about 3 c.c. of distilled water. The sol...

Journal: :Clinical chemistry 1965
R D MCNAIR

CONSTANT PROBLEM lli the hospital climiical laboratory is the emergency order which arrives with great regularity after the routine mu of a particular analysis has been finished. With automatiomi the problem has increased, particularly in laboratories where one automatic instrument is used for several different procedures in turii. There are three possible solutions. One is to perforni the test...

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