Matches in SemOpenAlex for { <https://semopenalex.org/work/W4231945010> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W4231945010 endingPage "412" @default.
- W4231945010 startingPage "408" @default.
- W4231945010 abstract "We describe two patients with mevalonate kinase deficiency and prominent hematologic abnormalities and cholestatic liver disease. Patient R.B. was not anemic at birth, but developed petechiae and cutaneous extramedullary hematopoiesis, hepatosplenomegaly, leukocytosis, and recurrent febrile events without positive bacterial or viral cultures. Patient N.M. manifested minor anomalies, hepatosplenomegaly, anemia, thrombocytopenia, recurrent febrile crises, and facial rashes. Mevalonic aciduria was found by urinary organic acid analysis, and mevalonate kinase deficiency was documented in both. The clinical spectrum of normocytic hypoplastic anemia, leukocytosis, thrombocytopenia, and abnormal blood cell forms led to diagnoses of congenital infection, myelodysplastic syndromes, or chronic leukemia in these patients before recognition of mevalonate kinase deficiency. Mevalonate kinase deficiency represents a single-gene abnormality that may be associated with significant hematologic findings. Recognition of the variability of this disorder with some patients manifesting only mild neurologic findings, yet significant hepatosplenomegaly, normocytic anemia, thrombocytopenia, and leukocytosis is important for all specialists who need to be aware of this organic aciduria. Am. J. Med. Genet. 78:408–412, 1998. © 1998 Wiley-Liss, Inc." @default.
- W4231945010 created "2022-05-12" @default.
- W4231945010 creator A5010775138 @default.
- W4231945010 creator A5012101099 @default.
- W4231945010 creator A5028583930 @default.
- W4231945010 creator A5047295983 @default.
- W4231945010 creator A5048634068 @default.
- W4231945010 creator A5069656708 @default.
- W4231945010 creator A5086596103 @default.
- W4231945010 creator A5090027115 @default.
- W4231945010 date "1998-08-06" @default.
- W4231945010 modified "2023-09-26" @default.
- W4231945010 title "Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency" @default.
- W4231945010 doi "https://doi.org/10.1002/(sici)1096-8628(19980806)78:5<408::aid-ajmg3>3.3.co;2-f" @default.
- W4231945010 hasPublicationYear "1998" @default.
- W4231945010 type Work @default.
- W4231945010 citedByCount "0" @default.
- W4231945010 crossrefType "journal-article" @default.
- W4231945010 hasAuthorship W4231945010A5010775138 @default.
- W4231945010 hasAuthorship W4231945010A5012101099 @default.
- W4231945010 hasAuthorship W4231945010A5028583930 @default.
- W4231945010 hasAuthorship W4231945010A5047295983 @default.
- W4231945010 hasAuthorship W4231945010A5048634068 @default.
- W4231945010 hasAuthorship W4231945010A5069656708 @default.
- W4231945010 hasAuthorship W4231945010A5086596103 @default.
- W4231945010 hasAuthorship W4231945010A5090027115 @default.
- W4231945010 hasConcept C109159458 @default.
- W4231945010 hasConcept C126322002 @default.
- W4231945010 hasConcept C20251656 @default.
- W4231945010 hasConcept C203014093 @default.
- W4231945010 hasConcept C2778080410 @default.
- W4231945010 hasConcept C2778248108 @default.
- W4231945010 hasConcept C2778923028 @default.
- W4231945010 hasConcept C2779134260 @default.
- W4231945010 hasConcept C2779440204 @default.
- W4231945010 hasConcept C2780644154 @default.
- W4231945010 hasConcept C2780854706 @default.
- W4231945010 hasConcept C28328180 @default.
- W4231945010 hasConcept C54355233 @default.
- W4231945010 hasConcept C62231903 @default.
- W4231945010 hasConcept C71924100 @default.
- W4231945010 hasConcept C86803240 @default.
- W4231945010 hasConcept C90924648 @default.
- W4231945010 hasConceptScore W4231945010C109159458 @default.
- W4231945010 hasConceptScore W4231945010C126322002 @default.
- W4231945010 hasConceptScore W4231945010C20251656 @default.
- W4231945010 hasConceptScore W4231945010C203014093 @default.
- W4231945010 hasConceptScore W4231945010C2778080410 @default.
- W4231945010 hasConceptScore W4231945010C2778248108 @default.
- W4231945010 hasConceptScore W4231945010C2778923028 @default.
- W4231945010 hasConceptScore W4231945010C2779134260 @default.
- W4231945010 hasConceptScore W4231945010C2779440204 @default.
- W4231945010 hasConceptScore W4231945010C2780644154 @default.
- W4231945010 hasConceptScore W4231945010C2780854706 @default.
- W4231945010 hasConceptScore W4231945010C28328180 @default.
- W4231945010 hasConceptScore W4231945010C54355233 @default.
- W4231945010 hasConceptScore W4231945010C62231903 @default.
- W4231945010 hasConceptScore W4231945010C71924100 @default.
- W4231945010 hasConceptScore W4231945010C86803240 @default.
- W4231945010 hasConceptScore W4231945010C90924648 @default.
- W4231945010 hasIssue "5" @default.
- W4231945010 hasLocation W42319450101 @default.
- W4231945010 hasOpenAccess W4231945010 @default.
- W4231945010 hasPrimaryLocation W42319450101 @default.
- W4231945010 hasRelatedWork W1982316175 @default.
- W4231945010 hasRelatedWork W1994767975 @default.
- W4231945010 hasRelatedWork W2069049435 @default.
- W4231945010 hasRelatedWork W2092389004 @default.
- W4231945010 hasRelatedWork W2130821696 @default.
- W4231945010 hasRelatedWork W2411431264 @default.
- W4231945010 hasRelatedWork W2954457252 @default.
- W4231945010 hasRelatedWork W3140458145 @default.
- W4231945010 hasRelatedWork W4236745293 @default.
- W4231945010 hasRelatedWork W4367602071 @default.
- W4231945010 hasVolume "78" @default.
- W4231945010 isParatext "false" @default.
- W4231945010 isRetracted "false" @default.
- W4231945010 workType "article" @default.