✦ LIBER ✦

Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency

✍ Scribed by M. J. Bennett; P. M. Coates; D. E. Hale; D. S. Millington; R. J. Pollitt; P. Rinaldo; C. R. Roe; K. Tanaka

Publisher: Springer
Year: 1990
Tongue: English
Weight: 622 KB
Volume: 13
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01799572

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Medium-chain acyl-CoA dehydrogenase defi

Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: The first Italian case

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

Neonatal presentation of medium-chain ac

Neonatal presentation of medium-chain acyl-CoA dehydrogenase deficiency in two families

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

Rett syndrome in a patient with medium c

Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency

✍ R. P. Beekman; N. Hofstee; J. A. M. Smeitink; B. T. Poll-The; M. Duran 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 276 KB

Production and disposal of medium-chain

Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency

✍ S. J. R. Heales; G. N. Thompson; A. F. Massoud; S. Rahman; D. Halliday; J. V. Le 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 424 KB

Population spectrum of ACADM genotypes c

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

✍ Esther M. Maier; Bernhard Liebl; Wulf Röschinger; Uta Nennstiel-Ratzel; Ralph Fi 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB

## Communicated by Ronald J.A. Wanders Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most frequent inherited defect of fatty acid oxidation, with a significant morbidity and mortality in undiagnosed patients. Adverse outcomes can effectively be prevented by avoiding metabolic stres

Is genotyping useful for the screening o

Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?

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