There are hundreds of known inborn errors of metabolism, including albinism, cystinuria and phenylketonuria (PKU). Advances in the diagnosis and treatment of inborn errors of metabolism have improved ...

[Updated 2023 Jul 30]. In: StatPearls National Library of Medicine. Oculocutaneous albinism and ocular albinism overview. Johns Hopkins Medicine. Glaucoma. National Institutes of Health. Congenital ...

However, the absence of people living with albinism highlights the ongoing challenges in achieving true inclusivity in the sector, EBENEZER BAJELA writes On a sunny afternoon, with the temperature ...

Love a child with albinism in abundance and build their self-esteem and confidence because a cruel and judgmental society filled with stigmatisation awaits them. This is the message from Margaret ...

When Xueli was a baby her parents left her on the ground outside an orphanage. In China, albinism is seen by some as a curse. The rare genetic condition causes a lack of pigment which makes Xueli ...

Referring to the stigma he faces in Somalia because he has albinism, 25 year-old Elmi Bile Mohamed says: "People tell me I am a cannibal and that I will eat their children. They are terrified of me." ...

The most common form of albinism is caused by mutations in oculocutaneous albinism II (OCA2), a melanosome-specific transmembrane protein with unknown function. Here we used direct patch-clamp of skin ...