Matches in SemOpenAlex for { <https://semopenalex.org/work/W2012805530> ?p ?o ?g. }
- W2012805530 endingPage "658" @default.
- W2012805530 startingPage "647" @default.
- W2012805530 abstract "Prenatal diagnosis for respiratory chain deficiencies is a complex procedure that requires a thorough diagnostic work-up of the index patient. This includes confirmation of the clinical and metabolic evaluations through histological and enzymatic examinations of tissue biopsies. Prenatal diagnosis currently relies on biochemical assays of respiratory chain complexes in chorionic villi or amniocytes and is possible by mutation analysis of nuclear genes in a limited but increasing proportion of cases. Based on a recent survey of prenatal diagnosis in families with complex I and complex IV deficiencies, performed at Nijmegen Centre for Mitochondrial Disorders (NCMD), prerequisites and strategies for performing prenatal diagnosis have been developed to increase reliability. Biochemical investigations in chorionic villi can be done reliably if the respiratory chain enzyme deficiency is expressed in both skeletal muscle and skin fibroblasts to rule out tissue specificity. No mitochondrial DNA defects must be suspected or established. The NCMD does not offer prenatal diagnosis until all the prerequisites have been confirmed. We expect prenatal diagnosis at the molecular level to become more feasible in time as the mutational spectrum broadens with advances in medical research." @default.
- W2012805530 created "2016-06-24" @default.
- W2012805530 creator A5008068590 @default.
- W2012805530 creator A5014162862 @default.
- W2012805530 creator A5027385222 @default.
- W2012805530 creator A5046755903 @default.
- W2012805530 creator A5061271886 @default.
- W2012805530 date "2003-10-01" @default.
- W2012805530 modified "2023-10-10" @default.
- W2012805530 title "Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi" @default.
- W2012805530 cites W1542972593 @default.
- W2012805530 cites W1604516742 @default.
- W2012805530 cites W1665535554 @default.
- W2012805530 cites W1899553364 @default.
- W2012805530 cites W1965972607 @default.
- W2012805530 cites W1966148532 @default.
- W2012805530 cites W1968735098 @default.
- W2012805530 cites W1969931826 @default.
- W2012805530 cites W1970097760 @default.
- W2012805530 cites W1974326651 @default.
- W2012805530 cites W1976535783 @default.
- W2012805530 cites W1982285812 @default.
- W2012805530 cites W1983267400 @default.
- W2012805530 cites W1983570419 @default.
- W2012805530 cites W1988773194 @default.
- W2012805530 cites W1993942394 @default.
- W2012805530 cites W1995633038 @default.
- W2012805530 cites W1996319083 @default.
- W2012805530 cites W1996330065 @default.
- W2012805530 cites W2001338354 @default.
- W2012805530 cites W2002836999 @default.
- W2012805530 cites W2004180667 @default.
- W2012805530 cites W2006893425 @default.
- W2012805530 cites W2020947215 @default.
- W2012805530 cites W2027951795 @default.
- W2012805530 cites W2028795563 @default.
- W2012805530 cites W2032678208 @default.
- W2012805530 cites W2046749013 @default.
- W2012805530 cites W2059746374 @default.
- W2012805530 cites W2064091373 @default.
- W2012805530 cites W2065246627 @default.
- W2012805530 cites W2069057403 @default.
- W2012805530 cites W2072969519 @default.
- W2012805530 cites W2087187507 @default.
- W2012805530 cites W2088977552 @default.
- W2012805530 cites W2090777605 @default.
- W2012805530 cites W2093751308 @default.
- W2012805530 cites W2094521844 @default.
- W2012805530 cites W2133975664 @default.
- W2012805530 cites W2146562808 @default.
- W2012805530 cites W2151271025 @default.
- W2012805530 cites W2167876804 @default.
- W2012805530 cites W2405750161 @default.
- W2012805530 cites W2419747831 @default.
- W2012805530 cites W4235318139 @default.
- W2012805530 cites W4251295488 @default.
- W2012805530 cites W58022441 @default.
- W2012805530 cites W2050812546 @default.
- W2012805530 doi "https://doi.org/10.1023/b:boli.0000005605.57420.b4" @default.
- W2012805530 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14707513" @default.
- W2012805530 hasPublicationYear "2003" @default.
- W2012805530 type Work @default.
- W2012805530 sameAs 2012805530 @default.
- W2012805530 citedByCount "24" @default.
- W2012805530 countsByYear W20128055302012 @default.
- W2012805530 countsByYear W20128055302013 @default.
- W2012805530 countsByYear W20128055302015 @default.
- W2012805530 countsByYear W20128055302020 @default.
- W2012805530 countsByYear W20128055302023 @default.
- W2012805530 crossrefType "journal-article" @default.
- W2012805530 hasAuthorship W2012805530A5008068590 @default.
- W2012805530 hasAuthorship W2012805530A5014162862 @default.
- W2012805530 hasAuthorship W2012805530A5027385222 @default.
- W2012805530 hasAuthorship W2012805530A5046755903 @default.
- W2012805530 hasAuthorship W2012805530A5061271886 @default.
- W2012805530 hasConcept C104317684 @default.
- W2012805530 hasConcept C142724271 @default.
- W2012805530 hasConcept C172680121 @default.
- W2012805530 hasConcept C24586158 @default.
- W2012805530 hasConcept C2776555163 @default.
- W2012805530 hasConcept C2778258057 @default.
- W2012805530 hasConcept C2779234561 @default.
- W2012805530 hasConcept C2781385326 @default.
- W2012805530 hasConcept C28859421 @default.
- W2012805530 hasConcept C3020377403 @default.
- W2012805530 hasConcept C3020761558 @default.
- W2012805530 hasConcept C47042493 @default.
- W2012805530 hasConcept C54355233 @default.
- W2012805530 hasConcept C60644358 @default.
- W2012805530 hasConcept C71924100 @default.
- W2012805530 hasConcept C86803240 @default.
- W2012805530 hasConceptScore W2012805530C104317684 @default.
- W2012805530 hasConceptScore W2012805530C142724271 @default.
- W2012805530 hasConceptScore W2012805530C172680121 @default.
- W2012805530 hasConceptScore W2012805530C24586158 @default.
- W2012805530 hasConceptScore W2012805530C2776555163 @default.
- W2012805530 hasConceptScore W2012805530C2778258057 @default.
- W2012805530 hasConceptScore W2012805530C2779234561 @default.