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Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B

PURPOSE: To report a rare case of Molybdenum Cofactor Deficiency with novel ocular manifestations. OBSERVATIONS: This is a case study of a 6-year-old boy who initially presented with conjunctival hyperemia and ocular pain of the left eye. Medical history revealed refractory convulsion, global develo...

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Detalles Bibliográficos
Autores principales: Yan, Wenjia, Huang, Li, Sun, Limei, Ding, Xiaoyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9178334/
https://www.ncbi.nlm.nih.gov/pubmed/35692435
http://dx.doi.org/10.1016/j.ajoc.2022.101586