Journal of pediatric endocrinology & metabolism : JPEM
A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.
Esra Sayar, Gizem Gökçe Altaş, Abdullah Sezer, Abdulkerim Kolkıran, Berna Ucan, Asburce Olgac
Published: 202510.1515/jpem-2025-0159
Abstract
OBJECTIVES: Galactosemia is a congenital disorder of carbohydrate metabolism, in which the body is unable to metabolize galactose properly. Coffin-Lowry syndrome (CLS) is characterized by intellectual disability, developmental delay, dysmorphic featu…
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