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Studies of defective medium chain acyl CoA dehydrogenase identified in neonatal screening

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📜 SIMILAR VOLUMES

Neonatal presentation of medium-chain ac

✍ J. M. Kirk; I. A. Laing; N. Smith; W. S. Uttley 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 154 KB

Medium-chain acyl-CoA dehydrogenase defi

✍ A. B. Burlina; M. J. Bennett; N. Gregersen; B. Dalla Barba; F. Zacchello 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 213 KB

Is genotyping useful for the screening o

✍ C. Ged; H. Sebai; H. Verneuil; F. Parrot-Rouleau 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 231 KB

Molecular pathogenesis of a novel mutati

✍ Kenichiro Shirao; Satoshi Okada; Go Tajima; Miyuki Tsumura; Keiichi Hara; Shin’i 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 554 KB

Early diagnosis and treatment of neonata

✍ C. Catzeflis; C. Bachmann; D. E. Hale; P. M. Coates; U. Wiesmann; J. P. Colombo; 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 723 KB

Neonatal screening for medium-chain acyl

✍ T. G. J. Derks; T. S. Boer; A. van Assen; T. Bos; J. Ruiter; H. R. Waterham; K. 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 443 KB