Concepedia

Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening

Uta Nennstiel, S. Arenz, Esther M. Maier, Ina Knerr, Joachim Baumkötter, Wulf Röschinger, Bernhard Liebl, Hans‐Beat Hadorn, Adelbert A. Roscher, Rüdiger von Kries

Molecular Genetics and Metabolism · 2005 · 62 citations · 11 references

DOI

Concepts

References

11

Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

Susan E. Waisbren · JAMA · 2003 · 363 citations

, , +15

Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

A. Kimberly Iafolla, Robert J. Thompson, Charles R. Roe · The Journal of Pediatrics · 1994 · 277 citations

, , +13

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*

Brage Storstein Andresen, Steve F. Dobrowolski, Linda P. O’Reilly et al. · The American Journal of Human Genetics · 2001 · 233 citations · Full text

, , +17

Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK

R. J. Pollitt, James V. Leonard · Archives of Disease in Childhood · 1998 · 123 citations · Full text

, , +17

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

Yoichi Matsubara, K. Narisawa, K. Tada et al. · The Lancet · 1991 · 112 citations

, , +12