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Article

Biotinidase deficiency characterized by skin and hair findings.

Clinics in dermatology - 1 Jan 2000

Yang Yan, Yang Ji-Yun, Chen Xue-Jun

Abstract excerpt

Biotinidase deficiency is a rare hereditary metabolic disease. Only a few cases have been reported in China, almost all of which have been in the pediatric population. We report a case of a girl with characteristic skin and hair findings with a negative family history, although her grandparents were consanguineous. The metabolites in the proband's blood and urine increased prominently, and the percentage of...

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PMID: 32972606
DOI: 10.1016/j.clindermatol.2020.03.004

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Source receipt: pubmed, retrieved 7 Sept 2026.

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