Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA

机译：哥伦比亚粘多糖贮积症IVA患者的基因型和临床特征的确定

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摘要

BackgroundAs mucopolysaccharidosis IVA (MPS IVA) is the most frequent MPS in Colombia, this paper aims to describe its clinical and mutational characteristics in 32 diagnosed patients included in this study.

机译：背景由于粘多糖贮积症（IVS）是哥伦比亚最常见的MPS，因此本文旨在描述本研究中32例经诊断的患者的临床和突变特征。

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期刊名称 The Application of Clinical Genetics
作者
Sandra M Tapiero-Rodriguez; Johanna C Acosta Guio; Gloria Liliana Porras-Hurtado; Natalia García; Martha Solano; Harry Pachajoa; Harvy M Velasco;
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作者单位

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年(卷),期 2018(11),-1
年度 2018
页码 45–57
总页数 13
原文格式 PDF
正文语种
中图分类遗传学;
关键词
mucopolysaccharidosis IVA Morquio syndrome GALNS lysosomal storage disorder mutation;

机译：黏多糖贮积症IVA;Morquio综合征;GALNS;溶酶体贮积症;突变;

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专利

1. Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA [J] . Sandra M Tapiero-Rodriguez, Johanna C Acosta Guio, Gloria Liliana Porras-Hurtado, The Application of Clinical Genetics . 2018,第2011期

机译：哥伦比亚粘多糖贮积症IVA患者的基因型和临床特征的测定
2. Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation [J] . Lina Johanna Moreno Giraldo, ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, Molecular Genetics and Metabolism Reports . 2018,第2期

机译：哥伦比亚粘多糖贮积症IVA患者的临床和分子特征，以及新的galns基因突变的描述
3. Clinical and?genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review [J] . Zhuhui Ge, Jianhua Mao, Huijun Shen, BMC Pediatrics . 2021,第1期

机译：伴随粘性霉素中的临床和遗传特征，儿童IVA和神经源性膀胱：两病例报告与文献综述
4. GENOTYPIC/PHENOTYPIC CHARACTERISTICS INJAPANESE PATIENTS WITH KCJVJ2-ASSOCIATEDANDERSEN-TAWIL SYNDROME [C] . ATSUSHI KOBORI, TAKEHIKOINOUE, YUKIO HOSAK International Congress on Electrocardiology . 2005

机译：日本KCJVJ2相关anderen-tawils综合征的基因型/表型特征
5. Predictive validity of clinical variables used in the determination of patient prognosis following a lumbar stabilization program [D] . Hicks, Gregory Evan 2002

机译：腰稳定计划后用于确定患者预后的临床变量的预测有效性
6. Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA and description of a new galns gene mutation [O] . Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, 2018

机译：哥伦比亚粘多糖贮积症IVA患者的临床和分子特征以及新的galns基因突变的描述
7. Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA [O] . Sandra Tapiero, Johanna Acosta, Gloria Porras-Hurtado, 2018

机译：粘性糖尿病患者含粘性蛋白患者基因型及临床特征的测定

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA

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