Homocystinuria and ocular complications – A review

Homocystinuria and ocular complications – A review

Homocystinuria is a rare metabolic inborn disorder caused due to dysfunctional cystathionine β-synthase (CBS) enzyme activity, thus resulting in elevated levels of methionine and homocysteine in the blood and urine. The timely recognition of this rare metabolic disorder and prompt methionine-restric...

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Bibliographic Details
Main Authors: Mehzabeen Rahman, Mohita Sharma, Pragati Aggarwal, Silkee Singla, Neha Jain
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Indian Journal of Ophthalmology
Subjects:
cystathionine β-synthase
ectopia lentis
genetics
homocystinuria
Online Access:http://www.ijo.in/article.asp?issn=0301-4738;year=2022;volume=70;issue=7;spage=2272;epage=2278;aulast=Rahman

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http://www.ijo.in/article.asp?issn=0301-4738;year=2022;volume=70;issue=7;spage=2272;epage=2278;aulast=Rahman

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