Mary Sowa

Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms

R.L. Puckett, Fred Lorey, Piero Rinaldo et al. · Molecular Genetics and Metabolism · 2009 · 64 citations

Urology, Newborn Screening, Variant Forms +10

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy

M. Boyer, Mary Sowa, Ivano Di Meo et al. · Molecular Genetics and Metabolism · 2018 · 37 citations

Nutrition, Neonatology, Ethylmalonic Encephalopathy +13

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet

José E. Abdenur, Mary Sowa, Mariella Simon et al. · Molecular Genetics and Metabolism Reports · 2020 · 28 citations · Full text

Free Carnitine, Nutrition, Aldo-keto Reductase +21

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients

Cristel C. Chapel-Crespo, Dimitar Gavrilov, Mary Sowa et al. · Molecular Genetics and Metabolism · 2019 · 12 citations · Full text

Inherited Metabolic Disease, Hematology, Pharmacology +6

Continuation of pegvaliase treatment during pregnancy: A case report

Monica Boyer, Janette Skaar, Mary Sowa et al. · Molecular Genetics and Metabolism Reports · 2021 · 12 citations · Full text