Matches in SemOpenAlex for { <https://semopenalex.org/work/W1969131054> ?p ?o ?g. }
Showing items 1 to 56 of
56
with 100 items per page.
- W1969131054 endingPage "516" @default.
- W1969131054 startingPage "516" @default.
- W1969131054 abstract "Background and aims: IEM are genetic diseases the majority with recessive inheritance and varied clinical presentation that turn diagnosis into a challenge. Especially in developing countries, knowledge of IEM by health professionals is restricted. In order to overcome this problem, an Information Service on IEM (SIEM) was created in Brazil, being a pioneering service in Latin America. SIEM is operating in the Genetics Service of HCPA since October 2001, helping physicians to diagnose suspected patients as a toll-free service. For each consultation a follow-up is conducted and the case is considered “concluded” after its diagnosis is confirmed and classified as metabolic disease or not. Some cases remain undiagnosed. This study aims to compare investigational strategies in infants admitted to ICU under 1y-old, in order to emphasize personal investigation and remote advisement in diagnosis. Methods: Cross-sectional study of 3 groups of children suspected to present an IEM, to be developed in 24 months, enrolling patients of NICU or PICU of HCPA, or suspected cases that consulted to SIEM, or even suspected cases which their biological samples were sent to IEM Laboratory of HCPA. Results: We did not find any paper comparing investigational strategies, that's why this study is important. Giugliani et al, in 1991, diagnosed IEM in 8% of suspected samples and Sanseverino studied ICU suspected patients confirming 13%. Unpublished data from SIEM showed a prevalence of 16%. Conclusions: we estimate to study 225 for each group to find a difference of at least 8% between SIEM cases and laboratory cases." @default.
- W1969131054 created "2016-06-24" @default.
- W1969131054 creator A5008758626 @default.
- W1969131054 creator A5020292557 @default.
- W1969131054 creator A5089564343 @default.
- W1969131054 date "2010-11-01" @default.
- W1969131054 modified "2023-10-16" @default.
- W1969131054 title "1039 Inborn Errors of Metabolism (IEM) in Infants Admitted to Intensive Care Units: A Study About Different Investigational Strategies" @default.
- W1969131054 doi "https://doi.org/10.1203/00006450-201011001-01039" @default.
- W1969131054 hasPublicationYear "2010" @default.
- W1969131054 type Work @default.
- W1969131054 sameAs 1969131054 @default.
- W1969131054 citedByCount "0" @default.
- W1969131054 crossrefType "journal-article" @default.
- W1969131054 hasAuthorship W1969131054A5008758626 @default.
- W1969131054 hasAuthorship W1969131054A5020292557 @default.
- W1969131054 hasAuthorship W1969131054A5089564343 @default.
- W1969131054 hasBestOaLocation W19691310541 @default.
- W1969131054 hasConcept C126322002 @default.
- W1969131054 hasConcept C141071460 @default.
- W1969131054 hasConcept C187212893 @default.
- W1969131054 hasConcept C2776169613 @default.
- W1969131054 hasConcept C2777601897 @default.
- W1969131054 hasConcept C2779134260 @default.
- W1969131054 hasConcept C2991842025 @default.
- W1969131054 hasConcept C512399662 @default.
- W1969131054 hasConcept C71924100 @default.
- W1969131054 hasConceptScore W1969131054C126322002 @default.
- W1969131054 hasConceptScore W1969131054C141071460 @default.
- W1969131054 hasConceptScore W1969131054C187212893 @default.
- W1969131054 hasConceptScore W1969131054C2776169613 @default.
- W1969131054 hasConceptScore W1969131054C2777601897 @default.
- W1969131054 hasConceptScore W1969131054C2779134260 @default.
- W1969131054 hasConceptScore W1969131054C2991842025 @default.
- W1969131054 hasConceptScore W1969131054C512399662 @default.
- W1969131054 hasConceptScore W1969131054C71924100 @default.
- W1969131054 hasLocation W19691310541 @default.
- W1969131054 hasOpenAccess W1969131054 @default.
- W1969131054 hasPrimaryLocation W19691310541 @default.
- W1969131054 hasRelatedWork W1992759812 @default.
- W1969131054 hasRelatedWork W2147159125 @default.
- W1969131054 hasRelatedWork W2789349946 @default.
- W1969131054 hasRelatedWork W2944509899 @default.
- W1969131054 hasRelatedWork W2997916497 @default.
- W1969131054 hasRelatedWork W4255912747 @default.
- W1969131054 hasRelatedWork W4288115108 @default.
- W1969131054 hasRelatedWork W4318336220 @default.
- W1969131054 hasRelatedWork W4214799196 @default.
- W1969131054 hasRelatedWork W4214955067 @default.
- W1969131054 hasVolume "68" @default.
- W1969131054 isParatext "false" @default.
- W1969131054 isRetracted "false" @default.
- W1969131054 magId "1969131054" @default.
- W1969131054 workType "article" @default.