Orphanet J Rare Dis 2021 Mar 22;16(1):144. Epub 2021 Mar 22.
Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University, 01130, Sarıçam, Adana, Turkey.
Background: This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme replacement therapy (ERT). Clinical data collected included physical appearance, anthropometric data, neurological and psychological examinations, cardiovascular evaluation, pulmonary function tests, eye and ear-nose-throat examinations, endurance in the 6-min walk test and/or 3-min stair climb test, joint range of motion, and skeletal investigations (X-rays, bone mineral density). Read More