다음과 같은 기능을 한번의 로그인으로 사용 할 수 있습니다.
NTIS 바로가기
Journal of genetic medicine, v.19 no.1, 2022년, pp.32 - 37
Yoo, Sukdong (Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children's Hospital) , Lee, Jun (Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children's Hospital) , Kim, Minji (Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children's Hospital) , Yoon, Ju Young (Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children's Hospital) , Cheon, Chong Kun (Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children's Hospital)
AI-Helper
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only ch...
Harmatz P, Shediac R. Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed) 2017;22:385-406.
Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 Suppl 5:v4-12.
Wichajarn K, Kim J, Yang A, Sohn YB, Lee BH, Yoo HW, et al. Clinical features, molecular analysis, and outcome of ERT in Korean patients with mucopolysaccharidosis type VI. J Korean Soc Inherit Metab Dis 2016;16:24-33.
Khoury PR, Mitsnefes M, Daniels SR, Kimball TR. Age-specific reference intervals for indexed left ventricular mass in children. J Am Soc Echocardiogr 2009;22:709-14.
Yang X, Wang H, Dong B, Hu B, Hao X, Chen X, et al. Standard liver volume-predicting formulae derived from normal liver volume in children under 18 years of age. Front Pediatr 2021;9:629645.
Prassopoulos P, Cavouras D. CT assessment of normal splenic size in children. Acta Radiol 1994;35:152-4.
Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, et al. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: review and classification of published variants in the ARSB gene. Hum Mutat 2018;39:1788-802.
Horovitz DDG, Leao EKEA, Ribeiro EM, Martins AM, Barth AL, Neri JICF, et al. Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: a resurvey study. Mol Genet Metab 2021;133:94-9.
Kampmann C, Lampe C, Whybra-Trumpler C, Wiethoff CM, Mengel E, Arash L, et al. Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy. J Inherit Metab Dis 2014;37:269-76.
Buyukgebiz B, Eroglu Y, Kovanlikaya I, Sen A, Buyukgebiz A. Maroteaux-Lamy syndrome associated with growth hormone deficiency. J Pediatr Endocrinol Metab 1995;8:305-7.
Alliston T. Chondroitin sulfate and growth factor signaling in the skeleton: possible links to MPS VI. J Pediatr Rehabil Med 2010;3:129-38.
Decker C, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med 2010;3:89-100.
Cattoni A, Motta S, Masera N, Gasperini S, Rovelli A, Parini R. The use of recombinant human growth hormone in patients with mucopolysaccharidoses and growth hormone deficiency: a case series. Ital J Pediatr 2019;45:93.
Polgreen LE, Miller BS. Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010;3:25-38.
Quartel A, Hendriksz CJ, Parini R, Graham S, Lin P, Harmatz P. Growth charts for individuals with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). JIMD Rep 2015;18:1-11.
*원문 PDF 파일 및 링크정보가 존재하지 않을 경우 KISTI DDS 시스템에서 제공하는 원문복사서비스를 사용할 수 있습니다.
오픈액세스 학술지에 출판된 논문
Copyright KISTI. All Rights Reserved.
※ AI-Helper는 부적절한 답변을 할 수 있습니다.