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Journal of Inherited Metabolic Disease|February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomesJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.International Journal of Neonatal Screening|October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn ScreeningAbigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.Nature Communications|April 2, 2019
Identification of human D lactate dehydrogenase deficiencyGlen R Monroe, Albertien M van Eerde, Federico Tessadori, et al.Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.Pageof 9