Matches in SemOpenAlex for { <https://semopenalex.org/work/W2322322701> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W2322322701 endingPage "633" @default.
- W2322322701 startingPage "625" @default.
- W2322322701 abstract "Summary Pyruvate dehydrogenase (PDH) deficiency has long been recognized as the most common defined cause of primary lactic acidosis in infancy and early childhood. More recently, it has also been described in patients with subacute/chronic neurodegenerative disease without significant metabolic acidosis. The great majority of cases of PDH deficiency result from a genetic defect in the E1α subunit of the complex. PDH E1α deficiency is an X‐linked inborn error of metabolism in which a high proportion of heterozygous females manifest the condition. In this review of 29 patients with PDH E1α deficiency, particular emphasis is given to those aspects of the disorder which are specifically related to the X chromosome location of the PDH E1α gene. These include the broad spectrum of clinical presentations and problems of diagnosis, especially antenatal diagnosis, in females." @default.
- W2322322701 created "2016-06-24" @default.
- W2322322701 creator A5034345944 @default.
- W2322322701 date "1992-07-01" @default.
- W2322322701 modified "2023-09-25" @default.
- W2322322701 title "Pyruvate dehydrogenase E1α deficiency" @default.
- W2322322701 cites W131820979 @default.
- W2322322701 cites W136319836 @default.
- W2322322701 cites W1517812011 @default.
- W2322322701 cites W194084082 @default.
- W2322322701 cites W1976974751 @default.
- W2322322701 cites W1979852424 @default.
- W2322322701 cites W1987500478 @default.
- W2322322701 cites W1995604642 @default.
- W2322322701 cites W2000533283 @default.
- W2322322701 cites W2011646732 @default.
- W2322322701 cites W2035234995 @default.
- W2322322701 cites W2043380127 @default.
- W2322322701 cites W2055041050 @default.
- W2322322701 cites W2061202598 @default.
- W2322322701 cites W2065189819 @default.
- W2322322701 cites W2087222898 @default.
- W2322322701 cites W2100629926 @default.
- W2322322701 cites W3192061832 @default.
- W2322322701 cites W84251460 @default.
- W2322322701 doi "https://doi.org/10.1007/bf01799619" @default.
- W2322322701 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1528021" @default.
- W2322322701 hasPublicationYear "1992" @default.
- W2322322701 type Work @default.
- W2322322701 sameAs 2322322701 @default.
- W2322322701 citedByCount "49" @default.
- W2322322701 countsByYear W23223227012013 @default.
- W2322322701 countsByYear W23223227012015 @default.
- W2322322701 countsByYear W23223227012016 @default.
- W2322322701 countsByYear W23223227012020 @default.
- W2322322701 countsByYear W23223227012021 @default.
- W2322322701 crossrefType "journal-article" @default.
- W2322322701 hasAuthorship W2322322701A5034345944 @default.
- W2322322701 hasConcept C104317684 @default.
- W2322322701 hasConcept C126322002 @default.
- W2322322701 hasConcept C134018914 @default.
- W2322322701 hasConcept C181199279 @default.
- W2322322701 hasConcept C187212893 @default.
- W2322322701 hasConcept C20251656 @default.
- W2322322701 hasConcept C24586158 @default.
- W2322322701 hasConcept C2777614518 @default.
- W2322322701 hasConcept C2777735490 @default.
- W2322322701 hasConcept C2779134260 @default.
- W2322322701 hasConcept C2779646400 @default.
- W2322322701 hasConcept C2780317664 @default.
- W2322322701 hasConcept C2780644154 @default.
- W2322322701 hasConcept C2780854706 @default.
- W2322322701 hasConcept C54355233 @default.
- W2322322701 hasConcept C55493867 @default.
- W2322322701 hasConcept C62231903 @default.
- W2322322701 hasConcept C71924100 @default.
- W2322322701 hasConcept C86803240 @default.
- W2322322701 hasConcept C88099638 @default.
- W2322322701 hasConceptScore W2322322701C104317684 @default.
- W2322322701 hasConceptScore W2322322701C126322002 @default.
- W2322322701 hasConceptScore W2322322701C134018914 @default.
- W2322322701 hasConceptScore W2322322701C181199279 @default.
- W2322322701 hasConceptScore W2322322701C187212893 @default.
- W2322322701 hasConceptScore W2322322701C20251656 @default.
- W2322322701 hasConceptScore W2322322701C24586158 @default.
- W2322322701 hasConceptScore W2322322701C2777614518 @default.
- W2322322701 hasConceptScore W2322322701C2777735490 @default.
- W2322322701 hasConceptScore W2322322701C2779134260 @default.
- W2322322701 hasConceptScore W2322322701C2779646400 @default.
- W2322322701 hasConceptScore W2322322701C2780317664 @default.
- W2322322701 hasConceptScore W2322322701C2780644154 @default.
- W2322322701 hasConceptScore W2322322701C2780854706 @default.
- W2322322701 hasConceptScore W2322322701C54355233 @default.
- W2322322701 hasConceptScore W2322322701C55493867 @default.
- W2322322701 hasConceptScore W2322322701C62231903 @default.
- W2322322701 hasConceptScore W2322322701C71924100 @default.
- W2322322701 hasConceptScore W2322322701C86803240 @default.
- W2322322701 hasConceptScore W2322322701C88099638 @default.
- W2322322701 hasIssue "4" @default.
- W2322322701 hasLocation W23223227011 @default.
- W2322322701 hasLocation W23223227012 @default.
- W2322322701 hasOpenAccess W2322322701 @default.
- W2322322701 hasPrimaryLocation W23223227011 @default.
- W2322322701 hasRelatedWork W1811284760 @default.
- W2322322701 hasRelatedWork W1999446785 @default.
- W2322322701 hasRelatedWork W2023898397 @default.
- W2322322701 hasRelatedWork W2056969364 @default.
- W2322322701 hasRelatedWork W2083416188 @default.
- W2322322701 hasRelatedWork W2154264779 @default.
- W2322322701 hasRelatedWork W2182303286 @default.
- W2322322701 hasRelatedWork W2187124681 @default.
- W2322322701 hasRelatedWork W2322322701 @default.
- W2322322701 hasRelatedWork W3207782316 @default.
- W2322322701 hasVolume "15" @default.
- W2322322701 isParatext "false" @default.
- W2322322701 isRetracted "false" @default.
- W2322322701 magId "2322322701" @default.
- W2322322701 workType "article" @default.