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Evaluation of 700 Patients Referred with a Preliminary Diagnosis of Biotinidase Deficiency by the National Newborn Metabolic Screening Program: a Single-Center Experience.

Sahin Erdol, Tugba Akbey Kocak,Huseyin Bilgin

Journal of Pediatric Endocrinology and Metabolism(2023)

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关键词
biotinidase deficiency,fluorometric method,newborn
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