Inborn error of metabolism - Wikipedia, the free encyclopedia
Inborn errors of metabolism are now often referred to as congenital metabolic diseases or ..... Inborn error of amino acid metabolism (E70-72, 270) ...
http://en.wikipedia.org/wiki/Inborn_error_of_metabolism...
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Amino Acid Metabolism, Inborn Errors - Genetics Home Reference
Amino Acid Metabolism, Inborn Errors. Related topics on Genetics Home Reference: 17β-hydroxysteroid dehydrogenase type 10 deficiency ...
http://ghr.nlm.nih.gov/conditionGroup=aminoacidmetabolisminb...
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Inborn errors of amino acid metabolism - Wikipedia, the free ...
Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids. Types include: ...
http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_met...
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Disorders of amino acid metabolism--1971.
ReviewDietary treatment of inborn errors of amino acid and carbohydrate metabolism. Bibl Nutr Dieta. 1973; (18):181-201. [Bibl Nutr Dieta. 1973] ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1517982/...
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Inborn Errors of Metabolism in Infancy and Early Childhood: An ...
1 Jun 2006 ... The early and specific diagnosis of inborn errors of metabolism and prompt initiation ..... Amino acid metabolism. Phenylketonuria. 1:15000 ...
http://www.aafp.org/afp/20060601/1981.html...
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Screening for inborn errors of amino acid metabolism.
Early diagnosis and treatment may prevent brain damage and mental retardation in young infants with inborn errors of amino acid metabolism. ...
http://www.ncbi.nlm.nih.gov/pubmed/2029175...
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In Born Error 0f Metabolism
In Born Error of Metabolism (IEM). Dr Mohammad Khassawneh ... Amino acid analysis. Maple syrup apple disease with increase leuocine, valine and
isoleuocine ...
http://www.just.edu.jo/~mykhassawneh/lectures/inbrnerr.ppt...
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HPLC analysis of amino acids in inborn errors of metabolism.
The detection of an apparently normal pattern of amino acids is also helpful to the clinician since it will eliminate many inborn errors of metabolism from ...
http://www.ncbi.nlm.nih.gov/pubmed/8629089...
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HHMI Scientist Abstract: David L. Valle, M.D.
6 Dec 2002 ... Inborn Errors in Amino Acid Metabolism and Peroxisome Biogenesis and Function. Summary: David Valle is interested in identifying the genes ...
http://www.hhmi.org/research/investigators/valle.html...
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[Prenatal diagnosis of inborn error of amino acid metabolism]
Prenatal diagnosis of inborn errors of amino acid metabolism was discussed from the viewpoints of its purpose, ethical problems, analysis methods, ...
http://www.ncbi.nlm.nih.gov/pubmed/1404881...
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