✦ LIBER ✦

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective

✍ Scribed by William J. Rhead

Publisher: Springer
Year: 2006
Tongue: English
Weight: 253 KB
Volume: 29
Category: Article
ISSN: 0141-8955
DOI: 10.1007/s10545-006-0292-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Newborn screening for medium chain acyl-

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome

✍ Carol Dezateux 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 174 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

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

Vitreous humour organic acids in medium

Vitreous humour organic acids in medium chain acyl-CoA dehydrogenase deficiency

✍ G. A. Mills; V. Walker; M. R. Ashton; N. J. Manning; R. J. Pollitt 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 164 KB

Analysis of abnormal urinary metabolites

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

✍ M. J. Bennett; P. M. Coates; D. E. Hale; D. S. Millington; R. J. Pollitt; P. Rin 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 622 KB