TY - JOUR AU - Kılavuz, Sebile AU - Basaran, Sibel AU - Kor, Deniz AU - Bulut, Fatma Derya AU - Erdem, Sevcan AU - Ballı, Hüseyin Tuğsan AU - Dağkıran, Muhammed AU - Bisgin, Atil AU - Mungan, Halise Neslihan Önenli PY - 2021 DA - 2021/03/22 TI - Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series JO - Orphanet Journal of Rare Diseases SP - 144 VL - 16 IS - 1 AB - 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). SN - 1750-1172 UR - https://doi.org/10.1186/s13023-021-01761-0 DO - 10.1186/s13023-021-01761-0 ID - Kılavuz2021 ER -