Kristi Bentler

Expanded newborn screening identifies maternal primary carnitine deficiency

Lisa A. Schimmenti, Eric Crombez, Bernd Schwahn et al. · Molecular Genetics and Metabolism · 2006 · 92 citations

Nutrition, Newborn Screening, Infant Nutrition +9

Recessive Mutations in <i>PCBD1</i> Cause a New Type of Early-Onset Diabetes

Deimantė Šimaitė, Julia Kofent, Maolian Gong et al. · Diabetes · 2014 · 51 citations · Full text

Pcbd1 Activity, New Type, Genetics +27

Siblings With Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Not Identified by Newborn Screening

Kyriakie Sarafoglou, Dietrich Matern, Krista Redlinger‐Grosse et al. · PEDIATRICS · 2011 · 45 citations

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota

Kyriakie Sarafoglou, Kristi Bentler, Amy Gaviglio et al. · Journal of Inherited Metabolic Disease · 2009 · 21 citations

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker et al. · Molecular Genetics and Metabolism · 2016 · 21 citations · Full text

Inborn Errors, Neonatology, Metabolic Disease +10