Amino acid disorders

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منابع مشابه

Amino Acid Disorders

Neurology (J. P. Mohrand and J. C. Gautier, Eds.), pp. 663– 667. Churchill Livingstone, New York. Nussenzweig, V., Sonntag, R., Biancalana, A., et al. (1953). Ação de corantes tri-fenil-metânicos sobre o Trypanosoma cruzi in vitro: Emprego da violeta de genciana na profilaxia da transmissão da moléstia de chagas por transfusão de sangue. O Hospital (Rio de Janeiro) 44, 731–744. Pagano, M. A., S...

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Disorders of amino acid transport

S. SEGAL of inherited metabolic diseases such as cystinosis, hereditary Division of Biochemical Development and Molecular Diseases, fructose intolerance and tyrosillaemia, and in most CaSeS is a Children’s Hospital of Philadelphia, and Departments of secondary phenomenon. Taken as a group, amino acid transport Pediatrics and Medicine, university of Pennsyfvania School of abnormalities are among...

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Disorders of branched chain amino acid metabolism

The three essential branched-chain amino acids (BCAAs), leucine, isoleucine and valine, share the first enzymatic steps in their metabolic pathways, including a reversible transamination followed by an irreversible oxidative decarboxylation to coenzyme-A derivatives. The respective oxidative pathways subsequently diverge and at the final steps yield acetyl- and/or propionyl-CoA that enter the K...

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Disorders of intestinal amino - acid transport

There are obvious analogies between disorders of intestinal amino-acid absorption and the more familiar anomalies of carbohydrate absorption. Both monosaccharides and free amino acids are important water-soluble nutrients which must be transported across the lipid-containing intestinal cell membrane by specific active transport processes involving concentration of the compounds within the cell ...

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Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: an eight-year experience.

BACKGROUND Amino acid disorders are a major group of inborn errors of metabolism (IEM) with variable clinical presentations. This study was aimed to provide the data of amino acid disorders detected in high-risk Thai patients referred to our metabolic lab from all over the country. METHODS From 2001 to 2009, we analyzed amino acids by HPLC in 1214 plasma and cerebrospinal fluid specimens. The...

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ژورنال

عنوان ژورنال: Annals of Translational Medicine

سال: 2018

ISSN: 2305-5839,2305-5847

DOI: 10.21037/atm.2018.12.12