Activity of daily living for Morquio A syndrome

• Published in: Molecular genetics and metabolism Vol. 118; no. 2; pp. 111 - 122
• Main Authors: Yasuda, Eriko, Suzuki, Yasuyuki, Shimada, Tsutomu, Sawamoto, Kazuki, Mackenzie, William G., Theroux, Mary C., Pizarro, Christian, Xie, Li, Miller, Freeman, Rahman, Tariq, Kecskemethy, Heidi H., Nagao, Kyoko, Morlet, Thierry, Shaffer, Thomas H., Chinen, Yasutsugu, Yabe, Hiromasa, Tanaka, Akemi, Shintaku, Haruo, Orii, Kenji E., Orii, Koji O., Mason, Robert W., Montaño, Adriana M., Fukao, Toshiyuki, Orii, Tadao, Tomatsu, Shunji
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.06.2016
• Subjects: Activities of Daily Living; ADL; Adolescent; Adult; Body Mass Index; Child; Child, Preschool; Cognition; Cohort Studies; Enzyme Replacement Therapy; ERT; Female; Hematopoietic Stem Cell Transplantation; HSCT; Humans; Infant; Movement; MPS IVA; Mucopolysaccharidosis IV - rehabilitation; Mucopolysaccharidosis IV - surgery; Severity of Illness Index; Surgical intervention; Surveys and Questionnaires; Treatment Outcome; MPS IVA; AIDHC; C6S; ERT; KS; ADL; GAG; Surgical intervention; GALNS; MPS; LSD; HSCT; BMI

The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire...