Matches in SemOpenAlex for { <https://semopenalex.org/work/W2570889820> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2570889820 endingPage "425" @default.
- W2570889820 startingPage "422" @default.
- W2570889820 abstract "Background Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, aspartylglucosaminidase (AGA). This disorder is rare in the general population except in Finland. Since the most characteristic feature of this disorder is a progressive developmental regression, patients often show no specific symptoms in the initial stages, and thus early diagnosis is often challenging. Case report We encountered a 16-year-old boy who began to show difficulties in his speech at the age of 6 years. Due to a mild regression in his development, he gradually lost common daily abilities. His diagnosis was first obtained through exome sequencing that identified a novel homozygous mutation in the AGA gene. This result was reasonable because of parental consanguinity. Reduced enzymatic activity of AGA was then confirmed. His urine was retrospectively screened by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) and a specific pattern of abnormal metabolites was identified. Conclusions Because both exome sequencing and MALDI-TOF-MS screening are adaptable and comprehensive, future combinatory use of these methods would be useful for diagnosis of rare inborn errors of metabolism such as AGU." @default.
- W2570889820 created "2017-01-13" @default.
- W2570889820 creator A5002059637 @default.
- W2570889820 creator A5020566211 @default.
- W2570889820 creator A5022760465 @default.
- W2570889820 creator A5054624652 @default.
- W2570889820 creator A5062372349 @default.
- W2570889820 creator A5065382621 @default.
- W2570889820 date "2017-05-01" @default.
- W2570889820 modified "2023-09-25" @default.
- W2570889820 title "Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan" @default.
- W2570889820 cites W1502576134 @default.
- W2570889820 cites W1576489564 @default.
- W2570889820 cites W2008226460 @default.
- W2570889820 cites W2071570841 @default.
- W2570889820 cites W2085498974 @default.
- W2570889820 cites W2098940647 @default.
- W2570889820 cites W2109030722 @default.
- W2570889820 cites W2114960140 @default.
- W2570889820 cites W2115499806 @default.
- W2570889820 cites W2161387809 @default.
- W2570889820 cites W1980007679 @default.
- W2570889820 doi "https://doi.org/10.1016/j.braindev.2016.12.004" @default.
- W2570889820 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28063748" @default.
- W2570889820 hasPublicationYear "2017" @default.
- W2570889820 type Work @default.
- W2570889820 sameAs 2570889820 @default.
- W2570889820 citedByCount "3" @default.
- W2570889820 countsByYear W25708898202019 @default.
- W2570889820 countsByYear W25708898202020 @default.
- W2570889820 countsByYear W25708898202021 @default.
- W2570889820 crossrefType "journal-article" @default.
- W2570889820 hasAuthorship W2570889820A5002059637 @default.
- W2570889820 hasAuthorship W2570889820A5020566211 @default.
- W2570889820 hasAuthorship W2570889820A5022760465 @default.
- W2570889820 hasAuthorship W2570889820A5054624652 @default.
- W2570889820 hasAuthorship W2570889820A5062372349 @default.
- W2570889820 hasAuthorship W2570889820A5065382621 @default.
- W2570889820 hasConcept C104317684 @default.
- W2570889820 hasConcept C10590036 @default.
- W2570889820 hasConcept C16671776 @default.
- W2570889820 hasConcept C187212893 @default.
- W2570889820 hasConcept C2776169613 @default.
- W2570889820 hasConcept C2779923321 @default.
- W2570889820 hasConcept C2908647359 @default.
- W2570889820 hasConcept C501734568 @default.
- W2570889820 hasConcept C54355233 @default.
- W2570889820 hasConcept C71924100 @default.
- W2570889820 hasConcept C86803240 @default.
- W2570889820 hasConcept C99454951 @default.
- W2570889820 hasConceptScore W2570889820C104317684 @default.
- W2570889820 hasConceptScore W2570889820C10590036 @default.
- W2570889820 hasConceptScore W2570889820C16671776 @default.
- W2570889820 hasConceptScore W2570889820C187212893 @default.
- W2570889820 hasConceptScore W2570889820C2776169613 @default.
- W2570889820 hasConceptScore W2570889820C2779923321 @default.
- W2570889820 hasConceptScore W2570889820C2908647359 @default.
- W2570889820 hasConceptScore W2570889820C501734568 @default.
- W2570889820 hasConceptScore W2570889820C54355233 @default.
- W2570889820 hasConceptScore W2570889820C71924100 @default.
- W2570889820 hasConceptScore W2570889820C86803240 @default.
- W2570889820 hasConceptScore W2570889820C99454951 @default.
- W2570889820 hasIssue "5" @default.
- W2570889820 hasLocation W25708898201 @default.
- W2570889820 hasLocation W25708898202 @default.
- W2570889820 hasOpenAccess W2570889820 @default.
- W2570889820 hasPrimaryLocation W25708898201 @default.
- W2570889820 hasRelatedWork W2019413671 @default.
- W2570889820 hasRelatedWork W2045767269 @default.
- W2570889820 hasRelatedWork W2171570825 @default.
- W2570889820 hasRelatedWork W2903353985 @default.
- W2570889820 hasRelatedWork W2951249912 @default.
- W2570889820 hasRelatedWork W3033608749 @default.
- W2570889820 hasRelatedWork W3126267126 @default.
- W2570889820 hasRelatedWork W3134459124 @default.
- W2570889820 hasRelatedWork W3213388383 @default.
- W2570889820 hasRelatedWork W4308891070 @default.
- W2570889820 hasVolume "39" @default.
- W2570889820 isParatext "false" @default.
- W2570889820 isRetracted "false" @default.
- W2570889820 magId "2570889820" @default.
- W2570889820 workType "article" @default.