FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3198970982> ?p ?o ?g. }

• W3198970982 abstract "Niemann-Pick disease type C (NPC) is an autosomal recessive, neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of tissue-specific lipids in lysosomes.We described sixteen patients with NPC diagnosed between the age of 1 month and 30 years at two tertiary care centers in Palestine. The clinical phenotype, brain magnetic resonance imaging (MRI), and molecular genetic analysis data were reviewed.The diagnosis was confirmed by molecular analysis in all patients. Fourteen out of sixteen patients were homozygous for the NPC1 p.G992W variant. Among them, most were categorized as having the late-infantile neurological form of disease onset. They predominantly manifested with early-onset visceral manifestations in the form of hepatosplenomegaly and prolonged neonatal jaundice, and late-onset neuropsychiatric manifestations in the form of vertical supranuclear gaze palsy (VSGP), ataxia, cognitive impairment and seizures. Brain MRI in 6 patients was normal in 5 or consistent with cerebellar hemisphere atrophy in 1 of them. Two other mutations were identified in the NPC1 gene, of which p.V845Cfs*24 was novel.Our results revealed phenotypic heterogeneity of NPC even within the same genotype, and add to the increasingly recognized evidence that cholestatic jaundice and hepatosplenomegaly during infancy, should alert the physician for the possibility of NPC. We reported a novel mutation in the NPC1 gene further expanding its genotype." @default.
• W3198970982 created "2021-09-27" @default.
• W3198970982 creator A5011205841 @default.
• W3198970982 creator A5020493611 @default.
• W3198970982 creator A5024016894 @default.
• W3198970982 creator A5049598933 @default.
• W3198970982 creator A5079713554 @default.
• W3198970982 date "2021-09-17" @default.
• W3198970982 modified "2023-09-26" @default.
• W3198970982 title "Niemann–Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene" @default.
• W3198970982 cites W1987468779 @default.
• W3198970982 cites W1998923213 @default.
• W3198970982 cites W1999953783 @default.
• W3198970982 cites W2003672470 @default.
• W3198970982 cites W2006281673 @default.
• W3198970982 cites W2055816898 @default.
• W3198970982 cites W2059209014 @default.
• W3198970982 cites W2068262899 @default.
• W3198970982 cites W2104204665 @default.
• W3198970982 cites W2105883407 @default.
• W3198970982 cites W2127795391 @default.
• W3198970982 cites W2155503300 @default.
• W3198970982 cites W2365037850 @default.
• W3198970982 cites W2559746488 @default.
• W3198970982 cites W2804385143 @default.
• W3198970982 cites W3010059267 @default.
• W3198970982 cites W3042866968 @default.
• W3198970982 doi "https://doi.org/10.1186/s12920-021-01072-0" @default.
• W3198970982 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8449430" @default.
• W3198970982 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34535129" @default.
• W3198970982 hasPublicationYear "2021" @default.
• W3198970982 type Work @default.
• W3198970982 sameAs 3198970982 @default.
• W3198970982 citedByCount "0" @default.
• W3198970982 crossrefType "journal-article" @default.
• W3198970982 hasAuthorship W3198970982A5011205841 @default.
• W3198970982 hasAuthorship W3198970982A5020493611 @default.
• W3198970982 hasAuthorship W3198970982A5024016894 @default.
• W3198970982 hasAuthorship W3198970982A5049598933 @default.
• W3198970982 hasAuthorship W3198970982A5079713554 @default.
• W3198970982 hasBestOaLocation W31989709821 @default.
• W3198970982 hasConcept C102747710 @default.
• W3198970982 hasConcept C104317684 @default.
• W3198970982 hasConcept C118552586 @default.
• W3198970982 hasConcept C12125453 @default.
• W3198970982 hasConcept C126322002 @default.
• W3198970982 hasConcept C135763542 @default.
• W3198970982 hasConcept C142724271 @default.
• W3198970982 hasConcept C2778264360 @default.
• W3198970982 hasConcept C2778456037 @default.
• W3198970982 hasConcept C2778552423 @default.
• W3198970982 hasConcept C2779134260 @default.
• W3198970982 hasConcept C2779440204 @default.
• W3198970982 hasConcept C2780635549 @default.
• W3198970982 hasConcept C2780906641 @default.
• W3198970982 hasConcept C501734568 @default.
• W3198970982 hasConcept C54355233 @default.
• W3198970982 hasConcept C71924100 @default.
• W3198970982 hasConcept C79879829 @default.
• W3198970982 hasConcept C86803240 @default.
• W3198970982 hasConceptScore W3198970982C102747710 @default.
• W3198970982 hasConceptScore W3198970982C104317684 @default.
• W3198970982 hasConceptScore W3198970982C118552586 @default.
• W3198970982 hasConceptScore W3198970982C12125453 @default.
• W3198970982 hasConceptScore W3198970982C126322002 @default.
• W3198970982 hasConceptScore W3198970982C135763542 @default.
• W3198970982 hasConceptScore W3198970982C142724271 @default.
• W3198970982 hasConceptScore W3198970982C2778264360 @default.
• W3198970982 hasConceptScore W3198970982C2778456037 @default.
• W3198970982 hasConceptScore W3198970982C2778552423 @default.
• W3198970982 hasConceptScore W3198970982C2779134260 @default.
• W3198970982 hasConceptScore W3198970982C2779440204 @default.
• W3198970982 hasConceptScore W3198970982C2780635549 @default.
• W3198970982 hasConceptScore W3198970982C2780906641 @default.
• W3198970982 hasConceptScore W3198970982C501734568 @default.
• W3198970982 hasConceptScore W3198970982C54355233 @default.
• W3198970982 hasConceptScore W3198970982C71924100 @default.
• W3198970982 hasConceptScore W3198970982C79879829 @default.
• W3198970982 hasConceptScore W3198970982C86803240 @default.
• W3198970982 hasIssue "1" @default.
• W3198970982 hasLocation W31989709821 @default.
• W3198970982 hasLocation W31989709822 @default.
• W3198970982 hasLocation W31989709823 @default.
• W3198970982 hasLocation W31989709824 @default.
• W3198970982 hasOpenAccess W3198970982 @default.
• W3198970982 hasPrimaryLocation W31989709821 @default.
• W3198970982 hasRelatedWork W199204758 @default.
• W3198970982 hasRelatedWork W2024286256 @default.
• W3198970982 hasRelatedWork W2071782152 @default.
• W3198970982 hasRelatedWork W2342570912 @default.
• W3198970982 hasRelatedWork W2365037850 @default.
• W3198970982 hasRelatedWork W2762574701 @default.
• W3198970982 hasRelatedWork W3005947150 @default.
• W3198970982 hasRelatedWork W3198970982 @default.
• W3198970982 hasRelatedWork W4210607818 @default.
• W3198970982 hasRelatedWork W4376630767 @default.
• W3198970982 hasVolume "14" @default.
• W3198970982 isParatext "false" @default.
• W3198970982 isRetracted "false" @default.
• W3198970982 magId "3198970982" @default.

• next