Scholars@Duke
Sarah Phyllis Young

Sarah Phyllis Young

Professor of Pediatrics
Pediatrics, Medical Genetics
Box 103856, Durham, NC 27710
801 Capitola Drive, Suite 6, Durham, NC 27713

Scholarly Works - Book sections

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Book section · 2015 PURPOSE: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc4 concentrations for patients with classi ... Full text Link to item Cite

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.

Book section · 2015 Recessive mutations in SLC25A1 encoding mitochondrial citrate carrier cause a rare inherited metabolic disorder, combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by epileptic encephalopathy, respiratory insufficiency, developmental arrest ... Full text Link to item Cite

Disorders of amino acid metabolism

Book section · January 1, 2007 Of the many genetic disorders that express themselves as specific defects of amino acid metabolism, some, including two of Garrod’s four original “inborn errors of metabolism” (albinism, alkaptonuria), produce significant abnormalities in the ocular tissue ... Cite