Matches in SemOpenAlex for { <https://semopenalex.org/work/W2336408814> ?p ?o ?g. }
Showing items 1 to 74 of
74
with 100 items per page.
- W2336408814 endingPage "48" @default.
- W2336408814 startingPage "47" @default.
- W2336408814 abstract "Niemann-Pick disease (NPD) is a rare autosomal recessively inherited lysosomal storage disorder caused by the deficiency of lysosomal acid sphingomyelinase, which is encoded by the sphingomyelin phosphodiesterase-1 (SMPD1, MIM# 607608) gene [Schuchman et al. 1991]. This defect results in the accumulation of sphingomyelin and other lipids within cells of the monocyte-macrophage system. Here, we report on an infant with a new frameshift mutation (c.575dupG) of the SMPD1 gene." @default.
- W2336408814 created "2016-06-24" @default.
- W2336408814 creator A5011024442 @default.
- W2336408814 creator A5023238489 @default.
- W2336408814 creator A5041327846 @default.
- W2336408814 creator A5056939802 @default.
- W2336408814 creator A5078918901 @default.
- W2336408814 creator A5082004017 @default.
- W2336408814 date "2016-01-14" @default.
- W2336408814 modified "2023-10-12" @default.
- W2336408814 title "Novel Mutation in an Infant with Niemann-Pick Disease Type A/B" @default.
- W2336408814 doi "https://doi.org/10.1055/s-0035-1565239" @default.
- W2336408814 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26766671" @default.
- W2336408814 hasPublicationYear "2016" @default.
- W2336408814 type Work @default.
- W2336408814 sameAs 2336408814 @default.
- W2336408814 citedByCount "0" @default.
- W2336408814 crossrefType "journal-article" @default.
- W2336408814 hasAuthorship W2336408814A5011024442 @default.
- W2336408814 hasAuthorship W2336408814A5023238489 @default.
- W2336408814 hasAuthorship W2336408814A5041327846 @default.
- W2336408814 hasAuthorship W2336408814A5056939802 @default.
- W2336408814 hasAuthorship W2336408814A5078918901 @default.
- W2336408814 hasAuthorship W2336408814A5082004017 @default.
- W2336408814 hasConcept C104317684 @default.
- W2336408814 hasConcept C126322002 @default.
- W2336408814 hasConcept C2778264360 @default.
- W2336408814 hasConcept C2779134260 @default.
- W2336408814 hasConcept C2779489717 @default.
- W2336408814 hasConcept C2781070647 @default.
- W2336408814 hasConcept C2781457462 @default.
- W2336408814 hasConcept C29906990 @default.
- W2336408814 hasConcept C41625074 @default.
- W2336408814 hasConcept C501734568 @default.
- W2336408814 hasConcept C54355233 @default.
- W2336408814 hasConcept C61322309 @default.
- W2336408814 hasConcept C71924100 @default.
- W2336408814 hasConcept C86803240 @default.
- W2336408814 hasConceptScore W2336408814C104317684 @default.
- W2336408814 hasConceptScore W2336408814C126322002 @default.
- W2336408814 hasConceptScore W2336408814C2778264360 @default.
- W2336408814 hasConceptScore W2336408814C2779134260 @default.
- W2336408814 hasConceptScore W2336408814C2779489717 @default.
- W2336408814 hasConceptScore W2336408814C2781070647 @default.
- W2336408814 hasConceptScore W2336408814C2781457462 @default.
- W2336408814 hasConceptScore W2336408814C29906990 @default.
- W2336408814 hasConceptScore W2336408814C41625074 @default.
- W2336408814 hasConceptScore W2336408814C501734568 @default.
- W2336408814 hasConceptScore W2336408814C54355233 @default.
- W2336408814 hasConceptScore W2336408814C61322309 @default.
- W2336408814 hasConceptScore W2336408814C71924100 @default.
- W2336408814 hasConceptScore W2336408814C86803240 @default.
- W2336408814 hasIssue "01" @default.
- W2336408814 hasLocation W23364088141 @default.
- W2336408814 hasLocation W23364088142 @default.
- W2336408814 hasOpenAccess W2336408814 @default.
- W2336408814 hasPrimaryLocation W23364088141 @default.
- W2336408814 hasRelatedWork W1512654039 @default.
- W2336408814 hasRelatedWork W1789442069 @default.
- W2336408814 hasRelatedWork W1991876246 @default.
- W2336408814 hasRelatedWork W2008994625 @default.
- W2336408814 hasRelatedWork W2016884991 @default.
- W2336408814 hasRelatedWork W2069446662 @default.
- W2336408814 hasRelatedWork W2121985916 @default.
- W2336408814 hasRelatedWork W2127977101 @default.
- W2336408814 hasRelatedWork W4362668786 @default.
- W2336408814 hasRelatedWork W50750065 @default.
- W2336408814 hasVolume "228" @default.
- W2336408814 isParatext "false" @default.
- W2336408814 isRetracted "false" @default.
- W2336408814 magId "2336408814" @default.
- W2336408814 workType "article" @default.