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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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Detalles Bibliográficos
Autores principales: Rahman, Mehzabeen, Sharma, Mohita, Aggarwal, Pragati, Singla, Silkee, Jain, Neha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426183/
https://www.ncbi.nlm.nih.gov/pubmed/35791106
http://dx.doi.org/10.4103/ijo.IJO_309_22