Biotinidase deficiency deterioration in the second decade, presenting as treatable cerebellar ataxia and encephalopathy masquerading as demyelination
Year: 2025
Type: article
Study design: Case Report
Source: BMJ Case Reports
Authors: Vykuntaraju K Gowda, Anagha C Badrinath, Varunvenkat M Srinivasan, Muskan P Verma, Amena Nayyer
Institution: Indira Gandhi Institute of Child Health
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W7116961548