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IV A型黏多糖贮积症(Morquio综合征):三例同胞病例系列报道

Mucopolysaccharidoses type IV A (Morquio syndrome): a case series of three siblings.

作者信息

Rekka P, Rathna P V, Jagadeesh S, Seshadri S

机构信息

Department of Pediatric and Preventive Dentistry, Meenakshi Ammal Dental College and Hospital, Meenakshi University, Maduravoyal, India.

出版信息

J Indian Soc Pedod Prev Dent. 2012 Jan-Mar;30(1):66-9. doi: 10.4103/0970-4388.95586.

DOI:10.4103/0970-4388.95586
PMID:22565520
Abstract

Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (mucopolysaccharides). Despite the well-documented oral and dental findings of MPS type IV, there is not much literature documented about the incidence of this disorder among siblings in the same family. This report outlines the clinical and radiographic findings found in three siblings with Morquio syndrome.

摘要

黏多糖贮积症(MPS)是一类遗传性代谢疾病,由参与糖胺聚糖(黏多糖)降解的溶酶体酶缺乏所致。尽管已有关于IV型MPS口腔和牙齿表现的详尽文献记载,但关于同一家庭中兄弟姐妹患该疾病的发病率,文献记载并不多。本报告概述了三名患有Morquio综合征的兄弟姐妹的临床和影像学表现。

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Dental Considerations for the Treatment of Patients with Morquio Syndrome.黏多糖贮积症IV型患者治疗的牙科考量
Int J Clin Pediatr Dent. 2022 Nov-Dec;15(6):707-710. doi: 10.5005/jp-journals-10005-2451.
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Morquio Syndrome Presenting with Dural Band Pathology: A Case Report.以硬脊膜束带病变为表现的黏多糖贮积症IV型:一例报告
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Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three-Year Follow-Up.罕见的IV A型黏多糖贮积症(莫尔基奥A综合征)的儿童牙科管理:三年随访病例报告
Case Rep Dent. 2020 Jan 22;2020:2565486. doi: 10.1155/2020/2565486. eCollection 2020.
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Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study.评估黏多糖贮积症 IV 型和 VI 型患者的口腔表现:临床和影像学研究。
Clin Oral Investig. 2018 Jan;22(1):201-208. doi: 10.1007/s00784-017-2100-8. Epub 2017 Mar 19.
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International guidelines for the management and treatment of Morquio A syndrome.莫尔基奥A综合征管理与治疗的国际指南。
Am J Med Genet A. 2015 Jan;167A(1):11-25. doi: 10.1002/ajmg.a.36833. Epub 2014 Oct 24.