Associated Papers
Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.
Messina M et al.
International Journal of Neonatal Screening, 2020
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.
Kılıç M et al.
Metabolic Brain Disease, 2017
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM et al.
Molecular Genetics and Metabolism, 2012
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