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1
Editorial: Cardiac issues in adults with mucopolysaccharidosis.社论：成人黏多糖贮积症患者的心脏问题
Front Cardiovasc Med. 2022 Aug 23;9:1016386. doi: 10.3389/fcvm.2022.1016386. eCollection 2022.
2
Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis.黏多糖贮积症酶替代治疗期间的脑磁共振成像结果
Pediatr Radiol. 2017 Nov;47(12):1659-1669. doi: 10.1007/s00247-017-3935-5. Epub 2017 Jul 21.
3
Hematopoietic cell transplantation for severe MPS I in the first six months of life: The heart of the matter.六个月龄内接受造血细胞移植治疗重型黏多糖贮积症 I 型：关键所在。
Mol Genet Metab. 2019 Feb;126(2):117-120. doi: 10.1016/j.ymgme.2018.11.007. Epub 2018 Nov 13.
4
Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome.未经移植的Hurler综合征患者接受酶替代疗法的长期认知和躯体结局
Mol Genet Metab Rep. 2017 Sep 27;13:64-68. doi: 10.1016/j.ymgmr.2017.07.012. eCollection 2017 Dec.
5
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings.早期酶替代疗法可使Ⅰ型黏多糖贮积症成功进行造血干细胞移植：两名日本兄妹的不同临床结局
Brain Dev. 2019 Jun;41(6):546-550. doi: 10.1016/j.braindev.2019.01.008. Epub 2019 Feb 10.
6
Residual glycosaminoglycan accumulation in mitral and aortic valves of a patient with attenuated MPS I (Scheie syndrome) after 6 years of enzyme replacement therapy: Implications for early diagnosis and therapy.酶替代治疗6年后，1例MPS I（谢伊综合征）症状较轻患者二尖瓣和主动脉瓣中残留糖胺聚糖的蓄积：对早期诊断和治疗的启示
Mol Genet Metab Rep. 2015 Nov 8;5:94-97. doi: 10.1016/j.ymgmr.2015.10.014. eCollection 2015 Dec.
7
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II.台湾黏多糖贮积症 II 型患者心脏特征的自然进程和酶替代疗法的长期效果。
Orphanet J Rare Dis. 2021 Feb 23;16(1):99. doi: 10.1186/s13023-021-01743-2.
8
Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.台湾黏多糖贮积症II型新生儿筛查项目及筛查阳性者的长期随访
J Pers Med. 2022 Jun 21;12(7):1023. doi: 10.3390/jpm12071023.
9
Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses.回顾性分析黏多糖贮积症患者尿糖胺聚糖排泄与酶替代治疗长期临床结局
Mol Genet Metab. 2020 Aug;130(4):255-261. doi: 10.1016/j.ymgme.2020.06.004. Epub 2020 Jun 11.
10
Evaluation of sleep-disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI.评估 IVA 型和 VI 型黏多糖贮积症儿童的睡眠呼吸紊乱及其与呼吸参数的关系。
Am J Med Genet A. 2021 Aug;185(8):2306-2314. doi: 10.1002/ajmg.a.62229. Epub 2021 May 7.

本文引用的文献

1
Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses.心律失常——成年黏多糖贮积症患者被低估的心血管风险
Mol Genet Metab. 2020 Jun;130(2):133-139. doi: 10.1016/j.ymgme.2020.03.005. Epub 2020 Mar 27.
2
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease.黏多糖贮积症 A 患者的颈动脉内膜中层厚度和弹性异常增加。
Orphanet J Rare Dis. 2020 Mar 17;15(1):73. doi: 10.1186/s13023-020-1331-y.
3
Cardiac disease in mucopolysaccharidosis type III.黏多糖贮积症 III 型的心脏疾病。
J Inherit Metab Dis. 2019 Mar;42(2):276-285. doi: 10.1002/jimd.12015. Epub 2019 Jan 22.
4
Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity.I型黏多糖贮积症小鼠的进行性心脏病可能由组织蛋白酶B活性增加介导。
Cardiovasc Pathol. 2017 Mar-Apr;27:45-50. doi: 10.1016/j.carpath.2017.01.001. Epub 2017 Jan 6.

Editorial: Cardiac issues in adults with mucopolysaccharidosis.

作者信息

Stepien Karolina M, Braunlin Elizabeth A

机构信息

Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Manchester, United Kingdom.

Division of Diabetes, Endocrinology and Gastroenterology, University of Manchester, Manchester, United Kingdom.

出版信息

Front Cardiovasc Med. 2022 Aug 23;9:1016386. doi: 10.3389/fcvm.2022.1016386. eCollection 2022.

DOI:10.3389/fcvm.2022.1016386
PMID:36093127
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9448787/
Abstract
摘要