Dr. Susan Winter, Medical Director of Genetics and Metabolism, is board certified in Pediatrics by the American Board of Pediatrics and board certified in Clinical Genetics, Clinical Cytogenetics and Clinical Biochemical Genetics by the American Board of Medical Genetics.

Dr. Winter has had an unarguable impact in the medical field. An expert in genetics and metabolism, she has given well over 100 presentations and lectures to professional societies and healthcare organizations. Dr. Winter publishes regularly in professional journals such as the American Journal of Medical Genetics, Pediatric Research and the Journal of Inherited Metabolic Disease. The American Red Cross Fresno Chapter recognized her with the Real Hero Award, for her service to Tsunami victims in Sri Lanka.

Throughout her career she has served in an administrative capacity in numerous leadership positions at Children’s Hospital and other health organizations. An active member of Children’s medical staff, Dr. Winter has been involved in several Hospital committees.

Graduating from the University of Alberta in Canada, Dr. Winter completed her internship, pediatric residency and fellowships in genetics and dysmorphology as well as genetics and metabolism at the Hospital for Sick Children in Canada.

Publications

Winter SC. “Treatment of carnitine deficiency.” J Inherit Metab Dis. 2003; 26(2-3):171-80.
PMID: 12889658

Helton E, Darragh R, Francis P, Fricker FJ, Jue K, Koch G, Mair D, Pierpont ME, Prochazka JV, Linn LS, Winter SC. “Metabolic aspects of myocardial disease and a role for L-carnitine in the treatment of childhood cardiomyopathy.” Pediatrics. 2000; 105(6):1260-70.
PMID: 10835067

Winter SC, Buist NR. “Inborn errors of metabolism: medical and administrative "orphans".” Am J Manag Care. 1998; 4(8):1164-8.
PMID: 10182891

Winter SC, Linn LS, Helton E. “Plasma carnitine concentrations in pregnancy, cord blood, and neonates and children.” Clin Chim Acta. 1995; 243(1):87-93.
PMID: 8747516

Winter S, Jue K, Prochazka J, Francis P, Hamilton W, Linn L, Helton E. “The role of L-carnitine in pediatric cardiomyopathy.” J Child Neurol. 1995; 10 Suppl 2:S45-51.
PMID: 8576569

Opala G, Winter S, Vance C, Vance H, Hutchison HT, Linn LS. “The effect of valproic acid on plasma carnitine levels.” Am J Dis Child. 1991; 145(9):999-1001.
PMID: 1877582

Winter SC, Simon M, Zorn EM, Szabo-Aczel S, Vance WH, O'Hara T, Higashi L. “Relative carnitine insufficiency in children with type I diabetes mellitus.” Am J Dis Child. 1989; 143(11):1337-9.
PMID: 2816861

Coates PM, Hale DE, Finocchiaro G, Tanaka K, Winter SC. “Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.” J Clin Invest. 1988; 81(1):171-5.
PMID: 3335634

Winter SC, Szabo-Aczel S, Curry CJ, Hutchinson HT, Hogue R, Shug A. “Plasma carnitine deficiency. Clinical observations in 51 pediatric patients.” Am J Dis Child. 1987; 141(6):660-5.
PMID: 3578191