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Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children.

作者信息

Horovitz Dafne D G, Acosta Angelina Xavier, de Rosso Giuliani Liane, Ribeiro Erlane Marques

机构信息

Centro de Genetica Medica, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ, Rio de Janeiro, RJ, Brazil.

Serviço de Genética Médica, Universidade Federal da Bahia, Salvador, BA, Brazil.

出版信息

Mol Genet Metab Rep. 2015 Sep 30;5:19-25. doi: 10.1016/j.ymgmr.2015.09.002. eCollection 2015 Dec.

DOI:10.1016/j.ymgmr.2015.09.002
PMID:28649537
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5471404/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/252cf564c4d0/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/0bcdc1187bdb/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/6cd38fe317b0/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/eaec537c5f09/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/4ddc9871b850/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/252cf564c4d0/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/0bcdc1187bdb/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/6cd38fe317b0/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/eaec537c5f09/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/4ddc9871b850/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c48/5471404/252cf564c4d0/gr5.jpg

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A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.巴西一项基于社区的VI型黏多糖贮积症研究：奠基者效应、近亲通婚和血缘关系的影响
Hum Hered. 2014;77(1-4):189-96. doi: 10.1159/000358404. Epub 2014 Jul 29.
2
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.1岁以下黏多糖贮积症II型患者的酶替代疗法
JIMD Rep. 2014;14:99-113. doi: 10.1007/8904_2013_289. Epub 2014 Feb 11.
3
Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.
黏多糖贮积症VI型患者的临床及基因型-表型研究：一项伊拉克单中心描述性研究。
Ann Med Surg (Lond). 2023 Sep 6;85(10):4835-4843. doi: 10.1097/MS9.0000000000001272. eCollection 2023 Oct.
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Surgical Management of Valvular Heart Disease in Mucopolysaccharidoses: A Review of Literature.黏多糖贮积症中瓣膜性心脏病的外科治疗：文献综述
Biomedicines. 2022 Feb 4;10(2):375. doi: 10.3390/biomedicines10020375.
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