FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4309678003> ?p ?o ?g. }

• W4309678003 endingPage "52" @default.
• W4309678003 startingPage "42" @default.
• W4309678003 abstract "Abstract Glycosylphosphatidylinositol anchored proteins (GPI‐APs) represent a class of molecules attached to the external leaflet of the plasma membrane by the GPI anchor where they play important roles in numerous cellular processes including neurogenesis, cell adhesion, immune response and signalling. Within the group of GPI anchor defects, six present with the clinical phenotype of Hyperphosphatasia with Mental Retardation Syndrome (HPMRS, Mabry Syndrome) characterized by moderate to severe intellectual disability, dysmorphic features, hypotonia, seizures and persistent hyperphosphatasia. We report the case of a 5‐year‐old female with global developmental delay associated with precocious puberty and persistently raised plasma alkaline phosphatase. Targeted next generation sequencing analysis of the HPMRS genes identified novel compound heterozygous variants in the PGAP2 gene (c.103del p.(Leu35Serfs*90)and c.134A > Gp.(His45Arg)) consistent with the diagnosis of HPMRS type 3. Cerebrospinal fluid (CSF) neurotransmitter analysis showed low levels of pyridoxal phosphate and 5‐methyltetrahydrofolate and raised homovanillic acid. Supplementation with pyridoxine and folinic acid led to normalization of biochemical abnormalities. The patient continues to make developmental progress with significant improvement in speech and fine motor skills. Our reported case expands the clinical spectrum of HPMRS3 in which multisystem involvement is being increasingly recognized. Furthermore, it shows that miss‐targeting GPI‐APs and the effect on normal cellular function could provide a physiopathologic explanation for the CSF biochemical abnormalities with management implications for a group of disorders that currently has no treatment that can lead possibly to improved clinical outcomes." @default.
• W4309678003 created "2022-11-29" @default.
• W4309678003 creator A5003729290 @default.
• W4309678003 creator A5005922614 @default.
• W4309678003 creator A5038964646 @default.
• W4309678003 creator A5075242670 @default.
• W4309678003 creator A5088150099 @default.
• W4309678003 date "2022-11-22" @default.
• W4309678003 modified "2023-10-14" @default.
• W4309678003 title "Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid" @default.
• W4309678003 cites W1451720474 @default.
• W4309678003 cites W1821623006 @default.
• W4309678003 cites W1994884669 @default.
• W4309678003 cites W1997583935 @default.
• W4309678003 cites W2008712454 @default.
• W4309678003 cites W2021002541 @default.
• W4309678003 cites W2044682877 @default.
• W4309678003 cites W2047378426 @default.
• W4309678003 cites W2066848397 @default.
• W4309678003 cites W2086720403 @default.
• W4309678003 cites W2096158749 @default.
• W4309678003 cites W2110327239 @default.
• W4309678003 cites W2110487761 @default.
• W4309678003 cites W2110747516 @default.
• W4309678003 cites W2111499992 @default.
• W4309678003 cites W2152080924 @default.
• W4309678003 cites W2167358102 @default.
• W4309678003 cites W2169987539 @default.
• W4309678003 cites W2171021427 @default.
• W4309678003 cites W2264483362 @default.
• W4309678003 cites W2342718583 @default.
• W4309678003 cites W2347254571 @default.
• W4309678003 cites W2520321201 @default.
• W4309678003 cites W2538525323 @default.
• W4309678003 cites W2592208549 @default.
• W4309678003 cites W2602867161 @default.
• W4309678003 cites W2603634354 @default.
• W4309678003 cites W2604247761 @default.
• W4309678003 cites W2619003410 @default.
• W4309678003 cites W2742455655 @default.
• W4309678003 cites W2755825356 @default.
• W4309678003 cites W2763087412 @default.
• W4309678003 cites W2790545221 @default.
• W4309678003 cites W2891099664 @default.
• W4309678003 cites W2898002782 @default.
• W4309678003 cites W2932718751 @default.
• W4309678003 cites W2986157308 @default.
• W4309678003 cites W2986597574 @default.
• W4309678003 cites W2993542180 @default.
• W4309678003 cites W3030564278 @default.
• W4309678003 cites W3044631204 @default.
• W4309678003 cites W3081189053 @default.
• W4309678003 cites W4309678003 @default.
• W4309678003 doi "https://doi.org/10.1002/jmd2.12347" @default.
• W4309678003 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36636587" @default.
• W4309678003 hasPublicationYear "2022" @default.
• W4309678003 type Work @default.
• W4309678003 citedByCount "2" @default.
• W4309678003 countsByYear W43096780032022 @default.
• W4309678003 countsByYear W43096780032023 @default.
• W4309678003 crossrefType "journal-article" @default.
• W4309678003 hasAuthorship W4309678003A5003729290 @default.
• W4309678003 hasAuthorship W4309678003A5005922614 @default.
• W4309678003 hasAuthorship W4309678003A5038964646 @default.
• W4309678003 hasAuthorship W4309678003A5075242670 @default.
• W4309678003 hasAuthorship W4309678003A5088150099 @default.
• W4309678003 hasBestOaLocation W43096780031 @default.
• W4309678003 hasConcept C104317684 @default.
• W4309678003 hasConcept C12125453 @default.
• W4309678003 hasConcept C126322002 @default.
• W4309678003 hasConcept C127716648 @default.
• W4309678003 hasConcept C134018914 @default.
• W4309678003 hasConcept C2776514930 @default.
• W4309678003 hasConcept C2776694085 @default.
• W4309678003 hasConcept C2779546488 @default.
• W4309678003 hasConcept C2779651940 @default.
• W4309678003 hasConcept C2779804826 @default.
• W4309678003 hasConcept C2780456651 @default.
• W4309678003 hasConcept C54355233 @default.
• W4309678003 hasConcept C71924100 @default.
• W4309678003 hasConcept C86803240 @default.
• W4309678003 hasConceptScore W4309678003C104317684 @default.
• W4309678003 hasConceptScore W4309678003C12125453 @default.
• W4309678003 hasConceptScore W4309678003C126322002 @default.
• W4309678003 hasConceptScore W4309678003C127716648 @default.
• W4309678003 hasConceptScore W4309678003C134018914 @default.
• W4309678003 hasConceptScore W4309678003C2776514930 @default.
• W4309678003 hasConceptScore W4309678003C2776694085 @default.
• W4309678003 hasConceptScore W4309678003C2779546488 @default.
• W4309678003 hasConceptScore W4309678003C2779651940 @default.
• W4309678003 hasConceptScore W4309678003C2779804826 @default.
• W4309678003 hasConceptScore W4309678003C2780456651 @default.
• W4309678003 hasConceptScore W4309678003C54355233 @default.
• W4309678003 hasConceptScore W4309678003C71924100 @default.
• W4309678003 hasConceptScore W4309678003C86803240 @default.
• W4309678003 hasIssue "1" @default.
• W4309678003 hasLocation W43096780031 @default.
• W4309678003 hasLocation W43096780032 @default.

• next