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Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency

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GREGERSEN, Niels, Brage S. ANDRESEN, Peter BROSS, Vibeke WINTER, Niels RÜDIGER, Stefan ENGST, Sandro GHISLA, Ernst CHRISTENSEN, Daniel P. KELLY, Arnold W. STRAUSS, Steen KØLVRAA, Lars BOLUND, Alexandra I. F. BLAKEMORE, D. CURTIS, Peter ENGEL, 1991. Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency. In: Journal of inherited metabolic disease. 14(3), pp. 314-316. ISSN 0141-8955. eISSN 1573-2665

@article{Gregersen1991Chara-8229, title={Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency}, year={1991}, number={3}, volume={14}, issn={0141-8955}, journal={Journal of inherited metabolic disease}, pages={314--316}, author={Gregersen, Niels and Andresen, Brage S. and Bross, Peter and Winter, Vibeke and Rüdiger, Niels and Engst, Stefan and Ghisla, Sandro and Christensen, Ernst and Kelly, Daniel P. and Strauss, Arnold W. and Kølvraa, Steen and Bolund, Lars and Blakemore, Alexandra I. F. and Curtis, D. and Engel, Peter} }

<rdf:RDF xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" xmlns:bibo="http://purl.org/ontology/bibo/" xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:dcterms="http://purl.org/dc/terms/" xmlns:xsd="http://www.w3.org/2001/XMLSchema#" > <rdf:Description rdf:about="https://kops.uni-konstanz.de/rdf/resource/123456789/8229"> <dc:creator>Rüdiger, Niels</dc:creator> <dc:rights>deposit-license</dc:rights> <dc:contributor>Engel, Peter</dc:contributor> <dc:creator>Blakemore, Alexandra I. F.</dc:creator> <dc:contributor>Ghisla, Sandro</dc:contributor> <dc:contributor>Rüdiger, Niels</dc:contributor> <dc:contributor>Winter, Vibeke</dc:contributor> <dc:creator>Strauss, Arnold W.</dc:creator> <dcterms:issued>1991</dcterms:issued> <dc:date rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2011-03-24T17:41:36Z</dc:date> <dc:contributor>Kølvraa, Steen</dc:contributor> <dc:creator>Engst, Stefan</dc:creator> <dc:contributor>Engst, Stefan</dc:contributor> <dc:creator>Gregersen, Niels</dc:creator> <dcterms:rights rdf:resource="https://creativecommons.org/licenses/by-nc-nd/2.0/legalcode"/> <dc:creator>Kelly, Daniel P.</dc:creator> <dc:creator>Andresen, Brage S.</dc:creator> <dc:contributor>Kelly, Daniel P.</dc:contributor> <dc:language>eng</dc:language> <bibo:uri rdf:resource="http://kops.uni-konstanz.de/handle/123456789/8229"/> <dc:contributor>Bolund, Lars</dc:contributor> <dc:creator>Ghisla, Sandro</dc:creator> <dc:creator>Kølvraa, Steen</dc:creator> <dc:contributor>Andresen, Brage S.</dc:contributor> <dcterms:bibliographicCitation>First publ. in: Journal of inherited metabolic disease 14 (1991), 3, pp. 314-316</dcterms:bibliographicCitation> <dcterms:available rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2011-03-24T17:41:36Z</dcterms:available> <dc:contributor>Gregersen, Niels</dc:contributor> <dc:contributor>Christensen, Ernst</dc:contributor> <dc:creator>Bolund, Lars</dc:creator> <dc:creator>Christensen, Ernst</dc:creator> <dc:creator>Engel, Peter</dc:creator> <dcterms:title>Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency</dcterms:title> <dcterms:abstract xml:lang="eng">Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (McKusick 20145) is the most common inherited defect of the beta-oxidation of fatty acid (Roe and Coates, 1989). It causes life-threatening attacks of hypoglycaemia and lethargy, and has led to sudden infant death in apparently asymptomatic children. It is therefore important to diagnose the enzyme deficiency in asymptomatic siblings of affected cases and in families with cases of sudden infant death syndrome and 'near miss'. The existing enzymatic methods used for the diagnosis are all either non-specific or laborious, unsuited for use in routine laboratories. The interest in defining the molecular defect(s) at the DNA level has therefore - besides the obvious interest in gaining more insight into the disease - been to develop fast and easy diagnostic tests.</dcterms:abstract> <dc:contributor>Blakemore, Alexandra I. F.</dc:contributor> <dc:creator>Curtis, D.</dc:creator> <dc:format>application/pdf</dc:format> <dc:contributor>Curtis, D.</dc:contributor> <dc:creator>Bross, Peter</dc:creator> <dc:creator>Winter, Vibeke</dc:creator> <dc:contributor>Strauss, Arnold W.</dc:contributor> <dc:contributor>Bross, Peter</dc:contributor> </rdf:Description> </rdf:RDF>

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