Results 121 to 130 of about 585 (187)

Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients

Oman Medical Journal, 2012
Objectives: This is a report on the types and patterns of inborn errors of metabolism (IEMs) of amino acids, organic acids and fatty acids oxidation detected by Tandem Mass Spectrometry for a period of 10 years (1998-2008) at Sultan Qaboos University ...
Sulaiman Al Riyami, Matar Al Maney, Surendra Nath Joshi, Riad Bayoumi   +3 more
doaj  

Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: Six years experience

, 2009
Objective: To determine the prevalence and types of inborn errors of amino acid or organic acid metabolism in a group of high risk Egyptian children with clinical signs and symptoms suggestive of inherited metabolic diseases.
Boehles, H, Sewell, A, Fateen, E, Gouda, A   +3 more
core  

ANALYTICAL METHODS DEVELOPMENT FOR THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM

, 2008
Veneziano, Maria
core  

Mental Reterdation in Inborn Errors of Amino Acid Metabolism

Eiyo To Shokuryo, 1976
Keiya TADA, Hisao AOKI, Goro TAKADA, Kiyoshi OMURA   +3 more
openaire   +3 more sources

Amino acids : biochemistry and nutrition

Amino acid biochemistry and nutrition spans a broad range of fields including biochemistry, metabolism, physiology, immunology, reproduction, pathology, and cell biology.
Wu, Guoyao
core  

Inborn Errors of Amino acid Metabolism

SEIKATSU EISEI (Journal of Urban Living and Health Association), 1981
openaire   +1 more source

[The inborn errors of metabolism of amino acids].

Postepy biochemii, 1973
openaire   +1 more source

Comparison of the physical health in adult patients with phenylketonuria (PKU) and healthy age-matched controls [PDF]

, 2009
Berlepsch, Juliana Freiin von, Freiin von Berlepsch, Juliana   +1 more
core  

Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

Molecular Genetics and Metabolism, 2006
Contains fulltext : 49952.pdf (Publisher’s version ) (Closed access)Essential fatty acids (EFAs), and their longer-chain more-unsaturated derivatives (LCPUFAs) in particular, are essential for normal growth and cognitive development ...
G Hornstra, Tom J de Koning, J A M Smeitink   +2 more
exaly   +2 more sources

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INBORN ERRORS OF AMINO-ACID METABOLISM

British Medical Bulletin, 1969
C R Scriver, Scriver Charles R
exaly   +3 more sources