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One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B

BACKGROUND. Oculocutaneous albinism (OCA) results in reduced melanin synthesis, skin hypopigmentation, increased risk of UV-induced malignancy, and developmental eye abnormalities affecting vision. No treatments exist. We have shown that oral nitisinone increases ocular and fur pigmentation in a mou...

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Detalles Bibliográficos
Autores principales: Adams, David R., Menezes, Supriya, Jauregui, Ramon, Valivullah, Zaheer M., Power, Bradley, Abraham, Maria, Jeffrey, Brett G., Garced, Angel, Alur, Ramakrishna P., Cunningham, Denise, Wiggs, Edythe, Merideth, Melissa A., Chiang, Pei-Wen, Bernstein, Shanna, Ito, Shosuke, Wakamatsu, Kazumasa, Jack, Rhona M., Introne, Wendy J., Gahl, William A., Brooks, Brian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413781/
https://www.ncbi.nlm.nih.gov/pubmed/30674731
http://dx.doi.org/10.1172/jci.insight.124387