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Results of neonatal and selective screening for biotinidase deficiency

✍ Scribed by C. Pérez-Cerdá; P. Martínez; B. Merinero; P. Rodríguez-Pombo; F. Román; M. J. García; M. Martínez-Pardo; M. Ugarte

Publisher
Springer
Year
1987
Tongue
English
Weight
187 KB
Volume
10
Category
Article
ISSN
0141-8955

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✍ A. B. Burlina; W. G. Sherwood; M. V. Marchioro; B. Dalla Bernardina; D. Gaburro 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 177 KB

Biotinidase deficiency satisfies all the criteria for incorporation into neonatal mass screening programmes for inborn errors of metabolism. We report our preliminary experiences with screening of 24300 newborns during a 6 monthperiod when i infant with biotinidase deficiency was detected. On the ba