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Mucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series.

作者信息

Fialová Jorga, Kojanová Martina, Šáhó Robert, Magner Martin

机构信息

Department of Dermatovenereology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

出版信息

JAAD Case Rep. 2025 Jun 10;62:146-150. doi: 10.1016/j.jdcr.2025.04.043. eCollection 2025 Aug.

DOI:10.1016/j.jdcr.2025.04.043
PMID:40778338
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12329501/
Abstract
摘要

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本文引用的文献

1
What causes hidradenitis suppurativa ?-15 years after.化脓性汗腺炎的病因是什么?——15 年后的研究进展
Exp Dermatol. 2020 Dec;29(12):1154-1170. doi: 10.1111/exd.14214.
2
Weekly administration of brodalumab in hidradenitis suppurativa: an open-label cohort study.布鲁达鲁单抗治疗化脓性汗腺炎的每周给药:一项开放标签队列研究。
Br J Dermatol. 2021 Feb;184(2):350-352. doi: 10.1111/bjd.19478. Epub 2020 Sep 24.
3
Hidradenitis suppurativa: an update on epidemiology, phenotypes, diagnosis, pathogenesis, comorbidities and quality of life.化脓性汗腺炎:流行病学、表型、诊断、发病机制、合并症及生活质量的最新进展
J Eur Acad Dermatol Venereol. 2021 Jan;35(1):50-61. doi: 10.1111/jdv.16677. Epub 2020 Jul 16.
4
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.MPS IVA 管理建议:基于系统证据和共识的指南。
Orphanet J Rare Dis. 2019 Jun 13;14(1):137. doi: 10.1186/s13023-019-1074-9.
5
Epidemiology of mucopolysaccharidoses.黏多糖贮积症的流行病学
Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26.
6
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.莫尔基奥A综合征患病率的系统评价:罕见病研究报告面临的挑战
Orphanet J Rare Dis. 2014 Nov 18;9:173. doi: 10.1186/s13023-014-0173-x.
7
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.IVA 型黏多糖贮积症的临床特征和诊断回顾。
Mol Genet Metab. 2013 Sep-Oct;110(1-2):54-64. doi: 10.1016/j.ymgme.2013.04.002. Epub 2013 Apr 10.
8
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.黏多糖贮积症 A 临床评估项目:基线结果表明黏多糖贮积症 A 患者存在进行性多系统临床损伤。
Mol Genet Metab. 2013 May;109(1):54-61. doi: 10.1016/j.ymgme.2013.01.021. Epub 2013 Feb 9.
9
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.国际莫尔基奥A综合征注册库:莫尔基奥A病的临床表现和自然病程
J Inherit Metab Dis. 2007 Apr;30(2):165-74. doi: 10.1007/s10545-007-0529-7. Epub 2007 Mar 8.