FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2033072021> ?p ?o ?g. }

• W2033072021 endingPage "747" @default.
• W2033072021 startingPage "738" @default.
• W2033072021 abstract "Seven boys with an apparently X-linked syndrome of dilated cardiomyopathy, growth retardation, neutropenia, and persistently elevated urinary levels of 3-methylglutaconate, 3-methylglutarate, and 2-ethylhydracrylate were studied. The natural history of the disorader was characterized by severe or lethal cardiac disease and recurrent infections during infancy and early childhood but relative improvement in later childhood. The initial presentation of the syndrome varied from congenital dilated cardiomyopathy to infantile congestive heart failure to isolated neutropenia without clinical evidence of heart disease. The excretion of 3-methylglutaconate and 3-methylglutarate appeared to be independent of the metabolism of leucine, the presumed precursor of these organic acids in humans. Although the cause of the organic aciduria remains obscure, the constellation of biochemical and clinical abnormalities forms a distinct syndrome that may be a relatively common cause of dilated cardiomyopathy or neutropenia in boys during infancy and childhood. Seven boys with an apparently X-linked syndrome of dilated cardiomyopathy, growth retardation, neutropenia, and persistently elevated urinary levels of 3-methylglutaconate, 3-methylglutarate, and 2-ethylhydracrylate were studied. The natural history of the disorader was characterized by severe or lethal cardiac disease and recurrent infections during infancy and early childhood but relative improvement in later childhood. The initial presentation of the syndrome varied from congenital dilated cardiomyopathy to infantile congestive heart failure to isolated neutropenia without clinical evidence of heart disease. The excretion of 3-methylglutaconate and 3-methylglutarate appeared to be independent of the metabolism of leucine, the presumed precursor of these organic acids in humans. Although the cause of the organic aciduria remains obscure, the constellation of biochemical and clinical abnormalities forms a distinct syndrome that may be a relatively common cause of dilated cardiomyopathy or neutropenia in boys during infancy and childhood." @default.
• W2033072021 created "2016-06-24" @default.
• W2033072021 creator A5001028282 @default.
• W2033072021 creator A5003557504 @default.
• W2033072021 creator A5043581166 @default.
• W2033072021 creator A5047295983 @default.
• W2033072021 creator A5050642503 @default.
• W2033072021 creator A5053522453 @default.
• W2033072021 creator A5061258186 @default.
• W2033072021 creator A5073796495 @default.
• W2033072021 date "1991-11-01" @default.
• W2033072021 modified "2023-10-11" @default.
• W2033072021 title "X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria" @default.
• W2033072021 cites W1534284551 @default.
• W2033072021 cites W183964462 @default.
• W2033072021 cites W1861967304 @default.
• W2033072021 cites W1936032545 @default.
• W2033072021 cites W1968099574 @default.
• W2033072021 cites W1974145389 @default.
• W2033072021 cites W1975494067 @default.
• W2033072021 cites W1986699715 @default.
• W2033072021 cites W1994903479 @default.
• W2033072021 cites W2000981761 @default.
• W2033072021 cites W2003625362 @default.
• W2033072021 cites W2015348287 @default.
• W2033072021 cites W2045644040 @default.
• W2033072021 cites W2045854483 @default.
• W2033072021 cites W2046501385 @default.
• W2033072021 cites W2063367773 @default.
• W2033072021 cites W2064372096 @default.
• W2033072021 cites W2065526913 @default.
• W2033072021 cites W2066334805 @default.
• W2033072021 cites W2068146745 @default.
• W2033072021 cites W2069159476 @default.
• W2033072021 cites W2078416451 @default.
• W2033072021 cites W2087650996 @default.
• W2033072021 cites W2089571684 @default.
• W2033072021 cites W2092001563 @default.
• W2033072021 cites W2097276810 @default.
• W2033072021 cites W2127122775 @default.
• W2033072021 cites W2127631498 @default.
• W2033072021 cites W4252645571 @default.
• W2033072021 doi "https://doi.org/10.1016/s0022-3476(05)80289-6" @default.
• W2033072021 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1719174" @default.
• W2033072021 hasPublicationYear "1991" @default.
• W2033072021 type Work @default.
• W2033072021 sameAs 2033072021 @default.
• W2033072021 citedByCount "248" @default.
• W2033072021 countsByYear W20330720212012 @default.
• W2033072021 countsByYear W20330720212013 @default.
• W2033072021 countsByYear W20330720212014 @default.
• W2033072021 countsByYear W20330720212015 @default.
• W2033072021 countsByYear W20330720212016 @default.
• W2033072021 countsByYear W20330720212017 @default.
• W2033072021 countsByYear W20330720212018 @default.
• W2033072021 countsByYear W20330720212019 @default.
• W2033072021 countsByYear W20330720212020 @default.
• W2033072021 countsByYear W20330720212021 @default.
• W2033072021 countsByYear W20330720212022 @default.
• W2033072021 countsByYear W20330720212023 @default.
• W2033072021 crossrefType "journal-article" @default.
• W2033072021 hasAuthorship W2033072021A5001028282 @default.
• W2033072021 hasAuthorship W2033072021A5003557504 @default.
• W2033072021 hasAuthorship W2033072021A5043581166 @default.
• W2033072021 hasAuthorship W2033072021A5047295983 @default.
• W2033072021 hasAuthorship W2033072021A5050642503 @default.
• W2033072021 hasAuthorship W2033072021A5053522453 @default.
• W2033072021 hasAuthorship W2033072021A5061258186 @default.
• W2033072021 hasAuthorship W2033072021A5073796495 @default.
• W2033072021 hasBestOaLocation W20330720211 @default.
• W2033072021 hasConcept C126322002 @default.
• W2033072021 hasConcept C134018914 @default.
• W2033072021 hasConcept C164705383 @default.
• W2033072021 hasConcept C187212893 @default.
• W2033072021 hasConcept C2776383484 @default.
• W2033072021 hasConcept C2776694085 @default.
• W2033072021 hasConcept C2777063308 @default.
• W2033072021 hasConcept C2778198053 @default.
• W2033072021 hasConcept C2778527355 @default.
• W2033072021 hasConcept C2778797674 @default.
• W2033072021 hasConcept C2780074459 @default.
• W2033072021 hasConcept C71924100 @default.
• W2033072021 hasConceptScore W2033072021C126322002 @default.
• W2033072021 hasConceptScore W2033072021C134018914 @default.
• W2033072021 hasConceptScore W2033072021C164705383 @default.
• W2033072021 hasConceptScore W2033072021C187212893 @default.
• W2033072021 hasConceptScore W2033072021C2776383484 @default.
• W2033072021 hasConceptScore W2033072021C2776694085 @default.
• W2033072021 hasConceptScore W2033072021C2777063308 @default.
• W2033072021 hasConceptScore W2033072021C2778198053 @default.
• W2033072021 hasConceptScore W2033072021C2778527355 @default.
• W2033072021 hasConceptScore W2033072021C2778797674 @default.
• W2033072021 hasConceptScore W2033072021C2780074459 @default.
• W2033072021 hasConceptScore W2033072021C71924100 @default.
• W2033072021 hasIssue "5" @default.
• W2033072021 hasLocation W20330720211 @default.
• W2033072021 hasLocation W20330720212 @default.
• W2033072021 hasOpenAccess W2033072021 @default.

• next