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ArticleLife (Basel, Switzerland)2026

Biochemical and Clinical Characterization of a Patient with Partial Biotinidase Deficiency Carrying the Rare BTD c.690C>G (p.Phe230Leu) Variant: A Case Report.

Daniela Semeraro et al.PubMed ↗Full text ↗Publisher ↗

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Biochemical and Clinical Characterization of a Patient with Partial Biotinidase Deficiency Carrying the Rare BTD c.690C>G (p.Phe230Leu) Variant: A Case Report. | OpenQuestion