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Single amino acid supplementation in aminoacidopathies。

2014年1月13日 · Aminoacidopathies are a group of rare and diverse disorders, caused by the deficiency of an enzyme or transporter involved in amino acid ...： 。

Congenital disorders of amino acid metabolism - Wikipedia。

Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.： 。

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment ...。

2017年11月1日 · Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that ...： wikipedia? 。

Aminoacidopathies and organic acidurias in Tunisia - PubMed。

Background: Inborn errors of metabolism are neglected in developing countries because they are not as common as infectious and nutritional disorders.： wikipedia? 。

[PDF] Nutritional Management of Aminoacidopathies in Saudi Arabia。

Aminoacidopathies: Inborn errors of amino acid metabolism result in the ... Australia, China, Japan, New Zealand, South Korea, Taiwan, and several European.。

Approach to diagnosis of metabolic diseases - IOS Press。

2016年8月26日 · The definition of an inborn error of metabolism is arbitrary. ... 9 Organic, 5 Fatty Acid, 6 Aminoacidopathies, 3 Hemoglobinopathies ...。

Aminoacidopathies - Therapeutics in Dermatology。

2014年5月19日 · Aminoacidopathies are diseases caused by a genetically determined, biochemical abnormality in the metabolic pathway of amino acids.： 。

Aminoacidopathies, urea cycle disorders, and organic acidurias。

Aminoacidopathies are caused by deficiencies in enzymes involved in amino acid metabolism and are often characterized by the accumulation of a toxic amino ...： wikipedia? 。

type transcription factor LeuB cross-links regulation of leucine ...。

2018年10月26日 · Protein concentration was measured with the Bio-Rad protein assay kit. ... Hamel FG, Upward JL, Siford GL, Duckworth WC (2003) Inhibition of ...。

Screening for organic acidurias and aminoacidopathies in high-risk ...。

Wajner M, Coelho DM, Barschak AG, Araujo PR, Pires RF, Lulhier FL and Vargas CR (2000) Reduction of large neutral amino acid concentrations in plasma and CSF of ...： wikipedia? tw