Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism
About this item
Full title
Author / Creator
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1-OCA4) that result from disruption in production of melanin from tyrosine. Current tre...
Alternative Titles
Full title
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3195484
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3195484
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI59763
