Matches in SemOpenAlex for { <https://semopenalex.org/work/W2808422275> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W2808422275 abstract "Glycogen Storage Disease type IV (GSD-IV; also known as Andersen disease) is a rare autosomal recessive disorder of glycogen metabolism caused by mutations in the Glycogen-Branching Enzyme 1 (GBE1) gene that encodes the 1,4-α-glucan-branching enzyme. The aim of this study is to identify the mutation of GBE1 gene in a family with GSD IV. A 17-month-old Chinese girl with hepatosplenomegaly was admitted to the Third Affiliated Hospital of Sun Yat-sen University (Guangzhou, China). She had shown signs of jaundice and failure to thrive. The peripheral blood samples from the proband and her parents and two older brothers were collected, and the pathogenic genes and mutational sites of the proband were screened by the next generation sequencing and verified by Sanger sequencing. In the family, the proband carried a homozygous GBE1 gene NM_000158: c.1571G>A: (p.Arg524Gln) mutation, while her parents and the younger brother carried a heterozygous mutation of c.1571G>A: (p.Arg524Gln). The mutation has been proved to be a rare mutation with frequency no greater than 0.01 in ExAC_ALL, ExAC_SAS and ExAC_EAS databases. The older brother was normal. The diagnosis of GSD IV was established and liver transplantation was recommended to her. The parents declined the liver transplantation. She died of liver failure at 22 months of age. This is the first homozygous mutation of GBE1 gene causing GSD IV being reported in mainland China. The identified mutations add to the list of GBE1 mutations of the hepatic form of GSD-IV." @default.
- W2808422275 created "2018-06-21" @default.
- W2808422275 creator A5032288905 @default.
- W2808422275 creator A5074112850 @default.
- W2808422275 creator A5088358290 @default.
- W2808422275 date "2018-01-01" @default.
- W2808422275 modified "2023-10-16" @default.
- W2808422275 title "Clinical characteristics and gene mutation analysis of one pedigree with glycogen storage disease type IV" @default.
- W2808422275 cites W1981172475 @default.
- W2808422275 cites W1993378347 @default.
- W2808422275 cites W2027555230 @default.
- W2808422275 cites W2028467878 @default.
- W2808422275 cites W2030333359 @default.
- W2808422275 cites W2040117730 @default.
- W2808422275 cites W2071456348 @default.
- W2808422275 cites W2077041592 @default.
- W2808422275 cites W2088774372 @default.
- W2808422275 cites W2097303936 @default.
- W2808422275 cites W2131937384 @default.
- W2808422275 cites W2337355324 @default.
- W2808422275 cites W2338187512 @default.
- W2808422275 cites W2441006293 @default.
- W2808422275 doi "https://doi.org/10.4066/biomedicalresearch.29-18-267" @default.
- W2808422275 hasPublicationYear "2018" @default.
- W2808422275 type Work @default.
- W2808422275 sameAs 2808422275 @default.
- W2808422275 citedByCount "0" @default.
- W2808422275 crossrefType "journal-article" @default.
- W2808422275 hasAuthorship W2808422275A5032288905 @default.
- W2808422275 hasAuthorship W2808422275A5074112850 @default.
- W2808422275 hasAuthorship W2808422275A5088358290 @default.
- W2808422275 hasBestOaLocation W28084222751 @default.
- W2808422275 hasConcept C104317684 @default.
- W2808422275 hasConcept C11960822 @default.
- W2808422275 hasConcept C12125453 @default.
- W2808422275 hasConcept C126322002 @default.
- W2808422275 hasConcept C188997412 @default.
- W2808422275 hasConcept C192118531 @default.
- W2808422275 hasConcept C2779134260 @default.
- W2808422275 hasConcept C2779468605 @default.
- W2808422275 hasConcept C2779609443 @default.
- W2808422275 hasConcept C2911091166 @default.
- W2808422275 hasConcept C2994225774 @default.
- W2808422275 hasConcept C501734568 @default.
- W2808422275 hasConcept C54355233 @default.
- W2808422275 hasConcept C71924100 @default.
- W2808422275 hasConcept C75563809 @default.
- W2808422275 hasConcept C76818968 @default.
- W2808422275 hasConcept C78245214 @default.
- W2808422275 hasConcept C86803240 @default.
- W2808422275 hasConceptScore W2808422275C104317684 @default.
- W2808422275 hasConceptScore W2808422275C11960822 @default.
- W2808422275 hasConceptScore W2808422275C12125453 @default.
- W2808422275 hasConceptScore W2808422275C126322002 @default.
- W2808422275 hasConceptScore W2808422275C188997412 @default.
- W2808422275 hasConceptScore W2808422275C192118531 @default.
- W2808422275 hasConceptScore W2808422275C2779134260 @default.
- W2808422275 hasConceptScore W2808422275C2779468605 @default.
- W2808422275 hasConceptScore W2808422275C2779609443 @default.
- W2808422275 hasConceptScore W2808422275C2911091166 @default.
- W2808422275 hasConceptScore W2808422275C2994225774 @default.
- W2808422275 hasConceptScore W2808422275C501734568 @default.
- W2808422275 hasConceptScore W2808422275C54355233 @default.
- W2808422275 hasConceptScore W2808422275C71924100 @default.
- W2808422275 hasConceptScore W2808422275C75563809 @default.
- W2808422275 hasConceptScore W2808422275C76818968 @default.
- W2808422275 hasConceptScore W2808422275C78245214 @default.
- W2808422275 hasConceptScore W2808422275C86803240 @default.
- W2808422275 hasIssue "10" @default.
- W2808422275 hasLocation W28084222751 @default.
- W2808422275 hasOpenAccess W2808422275 @default.
- W2808422275 hasPrimaryLocation W28084222751 @default.
- W2808422275 hasRelatedWork W2066105063 @default.
- W2808422275 hasRelatedWork W2337454955 @default.
- W2808422275 hasRelatedWork W2345985396 @default.
- W2808422275 hasRelatedWork W2883126636 @default.
- W2808422275 hasRelatedWork W3013427570 @default.
- W2808422275 hasRelatedWork W3024168541 @default.
- W2808422275 hasRelatedWork W3045608671 @default.
- W2808422275 hasRelatedWork W3153214790 @default.
- W2808422275 hasRelatedWork W3155541108 @default.
- W2808422275 hasRelatedWork W3201076994 @default.
- W2808422275 hasVolume "29" @default.
- W2808422275 isParatext "false" @default.
- W2808422275 isRetracted "false" @default.
- W2808422275 magId "2808422275" @default.
- W2808422275 workType "article" @default.