Matches in SemOpenAlex for { <https://semopenalex.org/work/W3196337907> ?p ?o ?g. }
Showing items 1 to 60 of
60
with 100 items per page.
- W3196337907 abstract "Microspherophakia is a developmental lens anomaly characterized by increased anteroposterior diameter and reduced equatorial diameter, which predisposes to secondary glaucoma. A 12-year-old boy presented with diminution of vision. Slit-lamp examination showed anteriorly dislocated crystalline lens. Blood analysis revealed elevated homocysteine levels. Genetic analysis showed cystathionine beta-synthase gene mutation, thus confirming the diagnosis of homocystinuria. To prevent secondary glaucoma, the patient was taken up for surgical intervention. This report highlights a case of homocystinuria with microspherophakia diagnosed with the help of genetic testing." @default.
- W3196337907 created "2021-09-13" @default.
- W3196337907 creator A5005007777 @default.
- W3196337907 creator A5029890446 @default.
- W3196337907 creator A5035712425 @default.
- W3196337907 creator A5045517603 @default.
- W3196337907 creator A5075589054 @default.
- W3196337907 creator A5089747424 @default.
- W3196337907 date "2020-01-01" @default.
- W3196337907 modified "2023-09-25" @default.
- W3196337907 title "Ocular manifestations of homocystinuria due to cystathionine beta-synthase deficiency: A rare case report with genetic analysis" @default.
- W3196337907 doi "https://doi.org/10.4103/tjosr.tjosr_86_20" @default.
- W3196337907 hasPublicationYear "2020" @default.
- W3196337907 type Work @default.
- W3196337907 sameAs 3196337907 @default.
- W3196337907 citedByCount "0" @default.
- W3196337907 crossrefType "journal-article" @default.
- W3196337907 hasAuthorship W3196337907A5005007777 @default.
- W3196337907 hasAuthorship W3196337907A5029890446 @default.
- W3196337907 hasAuthorship W3196337907A5035712425 @default.
- W3196337907 hasAuthorship W3196337907A5045517603 @default.
- W3196337907 hasAuthorship W3196337907A5075589054 @default.
- W3196337907 hasAuthorship W3196337907A5089747424 @default.
- W3196337907 hasBestOaLocation W31963379071 @default.
- W3196337907 hasConcept C16525657 @default.
- W3196337907 hasConcept C181199279 @default.
- W3196337907 hasConcept C185592680 @default.
- W3196337907 hasConcept C2779201268 @default.
- W3196337907 hasConcept C2779375456 @default.
- W3196337907 hasConcept C2780912031 @default.
- W3196337907 hasConcept C515207424 @default.
- W3196337907 hasConcept C55493867 @default.
- W3196337907 hasConcept C71924100 @default.
- W3196337907 hasConceptScore W3196337907C16525657 @default.
- W3196337907 hasConceptScore W3196337907C181199279 @default.
- W3196337907 hasConceptScore W3196337907C185592680 @default.
- W3196337907 hasConceptScore W3196337907C2779201268 @default.
- W3196337907 hasConceptScore W3196337907C2779375456 @default.
- W3196337907 hasConceptScore W3196337907C2780912031 @default.
- W3196337907 hasConceptScore W3196337907C515207424 @default.
- W3196337907 hasConceptScore W3196337907C55493867 @default.
- W3196337907 hasConceptScore W3196337907C71924100 @default.
- W3196337907 hasLocation W31963379071 @default.
- W3196337907 hasLocation W31963379072 @default.
- W3196337907 hasOpenAccess W3196337907 @default.
- W3196337907 hasPrimaryLocation W31963379071 @default.
- W3196337907 hasRelatedWork W144291426 @default.
- W3196337907 hasRelatedWork W146749986 @default.
- W3196337907 hasRelatedWork W1913107331 @default.
- W3196337907 hasRelatedWork W2045466323 @default.
- W3196337907 hasRelatedWork W2050346103 @default.
- W3196337907 hasRelatedWork W2066898518 @default.
- W3196337907 hasRelatedWork W2169270465 @default.
- W3196337907 hasRelatedWork W2393107478 @default.
- W3196337907 hasRelatedWork W2497190853 @default.
- W3196337907 hasRelatedWork W2614590942 @default.
- W3196337907 isParatext "false" @default.
- W3196337907 isRetracted "false" @default.
- W3196337907 magId "3196337907" @default.
- W3196337907 workType "article" @default.