FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2484850489> ?p ?o ?g. }

• W2484850489 abstract "Fabry disease is a rare lysosomal storage disorder with systemic involvement. The authors report on a large Fabry family with GLA p.M187R mutation and exhaustive ophthalmologic assessment.Comprehensive systemic evaluation and genetic diagnosis were performed. Ophthalmologic evaluation included intraocular pressure/visual acuity measurement, refractometry, slit lamp examination, retinography, and optical coherence tomography. Three parameters quantified retinal vessel tortuosity: sum of angle metrics, product of angle distance, and triangular index. Calculations were semiautomatized using dedicated software.Ten individuals (2 males and 8 females) were described. Seventy-five percent had retinal vessel tortuosity. One hundred percent had cornea verticillata. Perimacular vessels were predominantly involved. The correlation between the right and left eye tortuosity measurements was very tight. A significant correlation between retinal vessel tortuosity and systemic severity measured by general Mainz Severity Score Index (MSSI), renal MSSI, and neurological MSSI but no cardiac MSSI was observed. Right sum of angle metrics value was an independent statistical predictor of the general-MSSI score in presence of age.p.M187R mutation causes a severe systemic and ophthalmologic phenotype, in both male and female patients. Semiautomatic assessment of retinal vessel tortuosity is an objective and reproducible tool. All three parameters of tortuosity are closely associated with Fabry severity scores. Studies of larger series are being awaited to establish the role of retinal vessel tortuosity as a noninvasive marker of disease progression." @default.
• W2484850489 created "2016-08-23" @default.
• W2484850489 creator A5002711628 @default.
• W2484850489 creator A5005741173 @default.
• W2484850489 creator A5014973789 @default.
• W2484850489 creator A5028718577 @default.
• W2484850489 creator A5030595040 @default.
• W2484850489 creator A5031886970 @default.
• W2484850489 creator A5039369620 @default.
• W2484850489 creator A5077341676 @default.
• W2484850489 creator A5083739103 @default.
• W2484850489 date "2017-03-01" @default.
• W2484850489 modified "2023-10-18" @default.
• W2484850489 title "COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE" @default.
• W2484850489 cites W1790440725 @default.
• W2484850489 cites W1950546514 @default.
• W2484850489 cites W1983553272 @default.
• W2484850489 cites W1993295838 @default.
• W2484850489 cites W2005646037 @default.
• W2484850489 cites W2006259690 @default.
• W2484850489 cites W2019083039 @default.
• W2484850489 cites W2029942570 @default.
• W2484850489 cites W2035401929 @default.
• W2484850489 cites W2038342488 @default.
• W2484850489 cites W2042609729 @default.
• W2484850489 cites W2068779395 @default.
• W2484850489 cites W2075933787 @default.
• W2484850489 cites W2082514851 @default.
• W2484850489 cites W2084707261 @default.
• W2484850489 cites W2088813643 @default.
• W2484850489 cites W2093011620 @default.
• W2484850489 cites W2094355363 @default.
• W2484850489 cites W2103635519 @default.
• W2484850489 cites W2103913084 @default.
• W2484850489 cites W2108642865 @default.
• W2484850489 cites W2109971375 @default.
• W2484850489 cites W2113939749 @default.
• W2484850489 cites W2135231476 @default.
• W2484850489 cites W2139070008 @default.
• W2484850489 cites W2155293534 @default.
• W2484850489 doi "https://doi.org/10.1097/iae.0000000000001177" @default.
• W2484850489 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28225726" @default.
• W2484850489 hasPublicationYear "2017" @default.
• W2484850489 type Work @default.
• W2484850489 sameAs 2484850489 @default.
• W2484850489 citedByCount "18" @default.
• W2484850489 countsByYear W24848504892018 @default.
• W2484850489 countsByYear W24848504892019 @default.
• W2484850489 countsByYear W24848504892020 @default.
• W2484850489 countsByYear W24848504892021 @default.
• W2484850489 countsByYear W24848504892022 @default.
• W2484850489 countsByYear W24848504892023 @default.
• W2484850489 crossrefType "journal-article" @default.
• W2484850489 hasAuthorship W2484850489A5002711628 @default.
• W2484850489 hasAuthorship W2484850489A5005741173 @default.
• W2484850489 hasAuthorship W2484850489A5014973789 @default.
• W2484850489 hasAuthorship W2484850489A5028718577 @default.
• W2484850489 hasAuthorship W2484850489A5030595040 @default.
• W2484850489 hasAuthorship W2484850489A5031886970 @default.
• W2484850489 hasAuthorship W2484850489A5039369620 @default.
• W2484850489 hasAuthorship W2484850489A5077341676 @default.
• W2484850489 hasAuthorship W2484850489A5083739103 @default.
• W2484850489 hasConcept C118487528 @default.
• W2484850489 hasConcept C142724271 @default.
• W2484850489 hasConcept C178790620 @default.
• W2484850489 hasConcept C185250623 @default.
• W2484850489 hasConcept C185592680 @default.
• W2484850489 hasConcept C2777404818 @default.
• W2484850489 hasConcept C2778527774 @default.
• W2484850489 hasConcept C2779134260 @default.
• W2484850489 hasConcept C2780827179 @default.
• W2484850489 hasConcept C6648577 @default.
• W2484850489 hasConcept C71924100 @default.
• W2484850489 hasConcept C88785568 @default.
• W2484850489 hasConceptScore W2484850489C118487528 @default.
• W2484850489 hasConceptScore W2484850489C142724271 @default.
• W2484850489 hasConceptScore W2484850489C178790620 @default.
• W2484850489 hasConceptScore W2484850489C185250623 @default.
• W2484850489 hasConceptScore W2484850489C185592680 @default.
• W2484850489 hasConceptScore W2484850489C2777404818 @default.
• W2484850489 hasConceptScore W2484850489C2778527774 @default.
• W2484850489 hasConceptScore W2484850489C2779134260 @default.
• W2484850489 hasConceptScore W2484850489C2780827179 @default.
• W2484850489 hasConceptScore W2484850489C6648577 @default.
• W2484850489 hasConceptScore W2484850489C71924100 @default.
• W2484850489 hasConceptScore W2484850489C88785568 @default.
• W2484850489 hasLocation W24848504891 @default.
• W2484850489 hasLocation W24848504892 @default.
• W2484850489 hasOpenAccess W2484850489 @default.
• W2484850489 hasPrimaryLocation W24848504891 @default.
• W2484850489 hasRelatedWork W1984229251 @default.
• W2484850489 hasRelatedWork W1993427098 @default.
• W2484850489 hasRelatedWork W2058971889 @default.
• W2484850489 hasRelatedWork W2068930618 @default.
• W2484850489 hasRelatedWork W2074868774 @default.
• W2484850489 hasRelatedWork W2766684438 @default.
• W2484850489 hasRelatedWork W2998429862 @default.
• W2484850489 hasRelatedWork W3037505593 @default.
• W2484850489 hasRelatedWork W3045696513 @default.
• W2484850489 hasRelatedWork W3206683856 @default.

• next