[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

Abstract excerpt

BACKGROUND AND OBJECTIVE: To evaluate clinical, biochemical and genetic findings of two series of patients with biotinidase deficiency. PATIENTS AND METHOD: Fifteen cases detected through newborn screening and six through selective screening for hearing loss or metabolic disease. RESULTS: No patient detected by neonatal screening had symptoms and only one case with partial biotinidase activity developed myoclonic...

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