Matches in SemOpenAlex for { <https://semopenalex.org/work/W3099864146> ?p ?o ?g. }
Showing items 1 to 74 of
74
with 100 items per page.
- W3099864146 endingPage "S89" @default.
- W3099864146 startingPage "S89" @default.
- W3099864146 abstract "Severe Combined Immunodeficiency (SCID) is a rare group of disorders characterized by severe defects in T-cell and B-cell development and function. Clinical features of SCID include recurrent and severe opportunistic infections within the first year of life. SCID is fatal without treatment, such as hematopoietic stem cell transplantation, and early diagnosis improves survival outcomes. Newborn screening (NBS) using the T-cell receptor excision circle (TREC) assay has dramatically improved early identification of SCID. We describe the case of an infant with a normal NBS found to have T-B-NK+ SCID due to a novel RAG1 mutation." @default.
- W3099864146 created "2020-11-23" @default.
- W3099864146 creator A5009331967 @default.
- W3099864146 creator A5059649546 @default.
- W3099864146 date "2020-11-01" @default.
- W3099864146 modified "2023-09-26" @default.
- W3099864146 title "M265 NOVEL RAG1 MUTATION IN A CASE OF SCID WITH A NORMAL TREC NEWBORN SCREEN" @default.
- W3099864146 doi "https://doi.org/10.1016/j.anai.2020.08.293" @default.
- W3099864146 hasPublicationYear "2020" @default.
- W3099864146 type Work @default.
- W3099864146 sameAs 3099864146 @default.
- W3099864146 citedByCount "0" @default.
- W3099864146 crossrefType "journal-article" @default.
- W3099864146 hasAuthorship W3099864146A5009331967 @default.
- W3099864146 hasAuthorship W3099864146A5059649546 @default.
- W3099864146 hasConcept C104317684 @default.
- W3099864146 hasConcept C109159458 @default.
- W3099864146 hasConcept C113646796 @default.
- W3099864146 hasConcept C126322002 @default.
- W3099864146 hasConcept C156695909 @default.
- W3099864146 hasConcept C187212893 @default.
- W3099864146 hasConcept C203014093 @default.
- W3099864146 hasConcept C2776169613 @default.
- W3099864146 hasConcept C2777408962 @default.
- W3099864146 hasConcept C2777607303 @default.
- W3099864146 hasConcept C2779468541 @default.
- W3099864146 hasConcept C28328180 @default.
- W3099864146 hasConcept C2911091166 @default.
- W3099864146 hasConcept C2993713153 @default.
- W3099864146 hasConcept C501734568 @default.
- W3099864146 hasConcept C54355233 @default.
- W3099864146 hasConcept C71924100 @default.
- W3099864146 hasConcept C86803240 @default.
- W3099864146 hasConcept C8891405 @default.
- W3099864146 hasConceptScore W3099864146C104317684 @default.
- W3099864146 hasConceptScore W3099864146C109159458 @default.
- W3099864146 hasConceptScore W3099864146C113646796 @default.
- W3099864146 hasConceptScore W3099864146C126322002 @default.
- W3099864146 hasConceptScore W3099864146C156695909 @default.
- W3099864146 hasConceptScore W3099864146C187212893 @default.
- W3099864146 hasConceptScore W3099864146C203014093 @default.
- W3099864146 hasConceptScore W3099864146C2776169613 @default.
- W3099864146 hasConceptScore W3099864146C2777408962 @default.
- W3099864146 hasConceptScore W3099864146C2777607303 @default.
- W3099864146 hasConceptScore W3099864146C2779468541 @default.
- W3099864146 hasConceptScore W3099864146C28328180 @default.
- W3099864146 hasConceptScore W3099864146C2911091166 @default.
- W3099864146 hasConceptScore W3099864146C2993713153 @default.
- W3099864146 hasConceptScore W3099864146C501734568 @default.
- W3099864146 hasConceptScore W3099864146C54355233 @default.
- W3099864146 hasConceptScore W3099864146C71924100 @default.
- W3099864146 hasConceptScore W3099864146C86803240 @default.
- W3099864146 hasConceptScore W3099864146C8891405 @default.
- W3099864146 hasIssue "5" @default.
- W3099864146 hasLocation W30998641461 @default.
- W3099864146 hasOpenAccess W3099864146 @default.
- W3099864146 hasPrimaryLocation W30998641461 @default.
- W3099864146 hasRelatedWork W1632650014 @default.
- W3099864146 hasRelatedWork W2018352009 @default.
- W3099864146 hasRelatedWork W2073662310 @default.
- W3099864146 hasRelatedWork W2082236208 @default.
- W3099864146 hasRelatedWork W2571262758 @default.
- W3099864146 hasRelatedWork W2591312730 @default.
- W3099864146 hasRelatedWork W2809051629 @default.
- W3099864146 hasRelatedWork W2920933612 @default.
- W3099864146 hasRelatedWork W2970334679 @default.
- W3099864146 hasRelatedWork W3003781026 @default.
- W3099864146 hasVolume "125" @default.
- W3099864146 isParatext "false" @default.
- W3099864146 isRetracted "false" @default.
- W3099864146 magId "3099864146" @default.
- W3099864146 workType "article" @default.