نتایج جستجو برای: coa dehydrogenase deficiency

تعداد نتایج: 214964  

Journal: :Archives of disease in childhood 2001
A M Lund J V Leonard

Feeding difficulties are common in long chain 3-hydroxyacyl-CoA dehydrogenase deficiency in early childhood and are not associated with developmental disability, metabolic abnormalities, or the overnight feeding regimen. They are an inherent part of the phenotype and it is important to recognise them because of the distress and disruption they cause.

Journal: :Molecular genetics and metabolism 2002
Tien V Nguyen Brage S Andresen Thomas J Corydon Sandro Ghisla Nasser Abd-El Razik Al-Walid A Mohsen Stephen D Cederbaum Diane S Roe Charles R Roe Nicolas J Lench Jerry Vockley

The acyl-CoA dehydrogenases (ACDs) are a family of related enzymes that catalyze the alpha,beta-dehydrogenation of acyl-CoA esters. Two homologues active in branched chain amino acid metabolism have previously been identified. We have used expression in Escherichia coli to produce a previously uncharacterized ACD-like sequence (ACAD8) and define its substrate specificity. Purified recombinant e...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1971
K Tanaka E M Miller K J Isselbacher

Evidence is presented for the specific in vivo and in vitro inhibition of isovaleryl CoA dehydrogenation by hypoglycin A and its derivative, alpha-ketomethylenecyclopropylpropionic acid. alpha-Methylbutyryl CoA dehydrogenation was also impaired, but the degree of inhibition was much lower. Isobutyryl CoA dehydrogenation was not inhibited. 4-Pentenoic acid inhibited none of these reactions. It i...

Journal: :Archives of disease in childhood 1991
H C Losty P Lee M Alfaham O P Gray J V Leonard

Fatty infiltration of the liver at postmortem examination has been recommended as a criterion for selection of infants who have died suddenly and unexpectedly for further biochemical investigation for disorders of fatty acid oxidation. We describe a boy with medium chain acyl CoA dehydrogenase deficiency who died four months after diagnosis and in whom only minimal hepatic fatty infiltration wa...

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