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The mucopolysaccharidoses: a clinical review and guide to management.

作者信息

Wraith J E

机构信息

Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury.

出版信息

Arch Dis Child. 1995 Mar;72(3):263-7. doi: 10.1136/adc.72.3.263.

DOI:10.1136/adc.72.3.263
PMID:7741581
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1511064/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5280/1511064/d542d26425fb/archdisch00627-0079-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5280/1511064/6c7f29f722d5/archdisch00627-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5280/1511064/fc0762e23b50/archdisch00627-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5280/1511064/d542d26425fb/archdisch00627-0079-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5280/1511064/6c7f29f722d5/archdisch00627-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5280/1511064/fc0762e23b50/archdisch00627-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5280/1511064/d542d26425fb/archdisch00627-0079-b.jpg

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[Characterization of otorhinolaryngologic manifestations in children with mucopolysaccharide storage disease typeⅠand type Ⅱ].

本文引用的文献

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A newly recognized forme fruste of Hurler's disease (gargoylism).一种新发现的胡勒氏病（黏多糖贮积症Ⅰ型）的顿挫型。
Am J Ophthalmol. 1962 May;53:753-69.
2
Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings.黏多糖贮积症患儿：围手术期护理、发病率、死亡率及新发现
J Pediatr Surg. 1993 Mar;28(3):403-8; discussion 408-10. doi: 10.1016/0022-3468(93)90240-l.
3
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
[Ⅰ型和Ⅱ型黏多糖贮积症患儿耳鼻咽喉表现的特征分析]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Mar;38(3):221-224;229. doi: 10.13201/j.issn.2096-7993.2024.03.008.
4
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.智利IV-A型黏多糖贮积症患者的基因型和表型特征
Mol Syndromol. 2023 Oct;14(5):416-427. doi: 10.1159/000529807. Epub 2023 Apr 19.
5
Hurler Syndrome (Mucopolysaccharidosis Type 1): A Case Report.黏多糖贮积症 I 型（胡勒综合征）：一例报告
Cureus. 2023 Apr 18;15(4):e37785. doi: 10.7759/cureus.37785. eCollection 2023 Apr.
6
Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review.黏多糖贮积症及II型和III型黏脂贮积症中的口面部异常：一项系统评价
JIMD Rep. 2022 Sep 21;63(6):621-629. doi: 10.1002/jmd2.12331. eCollection 2022 Nov.
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Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.Hurler 综合征的新生儿早期心脏表型：病例报告及文献复习。
Genes (Basel). 2022 Jul 22;13(8):1293. doi: 10.3390/genes13081293.
8
Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses.成人黏多糖贮积症未满足的心脏临床需求
Front Cardiovasc Med. 2022 Jun 10;9:907175. doi: 10.3389/fcvm.2022.907175. eCollection 2022.
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New Indications for Hematopoietic Stem Cell Gene Therapy in Lysosomal Storage Disorders.溶酶体贮积症中造血干细胞基因治疗的新适应症
Front Oncol. 2022 May 13;12:885639. doi: 10.3389/fonc.2022.885639. eCollection 2022.
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Front Cardiovasc Med. 2022 Apr 4;9:851016. doi: 10.3389/fcvm.2022.851016. eCollection 2022.
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4
Perioperative management of children with mucopolysaccharidoses.黏多糖贮积症患儿的围手术期管理
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