D. Matern

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.

D. Lev, S. Korman, N. Gregersen, 2007, Molecular genetics and metabolism.

Hypokalemia accompanying hyperchloremic acidosis after ureterosigmoidostomy.

D. Matern, 1954, The New England journal of medicine.

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

C. Scharfe, I. Holm, K. Swoboda, 2022, Frontiers in Genetics.

ScreenPlus: A comprehensive, dynamic, multi-disorder newborn screening pilot program

M. Gelb, J. Orsini, M. Caggana, 2020, Molecular Genetics and Metabolism.