A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Piekutowska Abramczuk, Dorota ^a   Olsen, Rikke K J ^b   Wierzba, Jolanta ^c   Popowska, Ewa ^a   Jurkiewicz, Dorota ^a   Ciara, Elzbieta ^a   Ołtarzewski, Mariusz ^d   Gradowska, Wanda ^a   Sykut Cegielska, Jolanta ^a   Krajewska Walasek, Małgorzata ^a   Andresen, Brage S ^e   Gregersen, Niels ^b   Pronicka, Ewa ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c MEDICAL UNIVERSITY OF GDANSK   (Poland)

^d INSTITUTE OF MOTHER AND CHILD   (Poland)

^e UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; HADHA PROTEIN, HUMAN; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN ALPHA SUBUNIT;

ARTICLE; CARDIOMYOPATHY; DEMOGRAPHY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DRIED BLOOD SPOT TESTING; ENZYMOLOGY; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HUMAN; METHODOLOGY; MITOCHONDRIAL MYOPATHY; MUTATION; NEUROLOGIC DISEASE; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLAND; PREDICTIVE VALUE; PREVALENCE; RHABDOMYOLYSIS; CARDIOMYOPATHIES; DEFICIENCY; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIAL MYOPATHIES; NERVOUS SYSTEM DISEASES; PROCEDURES;

3-HYDROXYACYL COA DEHYDROGENASES; CARDIOMYOPATHIES; DNA MUTATIONAL ANALYSIS; DRIED BLOOD SPOT TESTING; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT; MUTATION; NEONATAL SCREENING; NERVOUS SYSTEM DISEASES; PHENOTYPE; POLAND; PREDICTIVE VALUE OF TESTS; PREVALENCE; RESIDENCE CHARACTERISTICS; RHABDOMYOLYSIS;

EID: 84897956210     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9190-7     Document Type: Article

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