Medical management of Genetic Disorders

Biotinidase deficiency

Tankeu et al., 2023 - Review of published case series, including sign and symptoms, clinical presentation, outcomes. 

Wolf, 2022 - Commentary about use of biotin in biotin-responsive disorders.

PCDT, 2018 - Brazilian Public Health system guidelines

Wolf, 2012 - Comprehensive review of practical issues on the diagnosis and management of Biotinidase deficiency

Genereviews 


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