云南高校图书馆联盟文献共享服务平台- MUCOPOLYSACCHARIDOSIS

MUCOPOLYSACCHARIDOSIS: 作品数：13被引量：8H指数：2; 导出分析报告; 相关领域：医药卫生更多>>; 相关期刊：《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》《Frontiers in Biology》《International Journal of Ophthalmology(English edition)》《Chinese Medical Journal》更多>>; 相关基金：国家自然科学基金中国博士后科学基金更多>>

A novel homozygous missense variant in ARSK causes MPS X,a new subtype of mucopolysaccharidosis: 《Genes & Diseases》2024年第3期87-90,共4页Miao Sun Cornelia K.Kaminsky Philip Deppe Mai-Brittllse Frederic M.Vaz Barbara Plecko Torben Lubke Linda M.Randolph; Mucopolysaccharidoses(MPS)are a group of rare inborn errors of metabolism caused by defective lysosomal enzymes which prevent cells from degrading and recycling certain carbohydrates and fats,resulting in the storage ...; 关键词：metabolism doses polys

Mucopolysaccharidosis typeⅢB:a current review and exploration of the AAV therapy landscape被引量：1: 《Neural Regeneration Research》2024年第2期355-359,共5页Courtney J.Rouse Victoria N.Jensen Coy D.Heldermon; supported by Sanfilippo Children’s Foundation;Sanfilippo Fundacja;Sanfilippo Initiative;Cure Sanfilippo;Lacerta Therapeutics;NIH/NINDS R01NS102624(to CDH)。; Mucopolysaccharidoses typeⅢB is a rare genetic disorder caused by mutations in the gene that encodes for N-acetyl-alpha-glucosaminidase.This results in the aggregation of heparan sulfate polysaccharides within cell l...; 关键词：adeno-associated virus central nervous system gene therapy heparan sulfate immune response mucopolysaccharidoses type IIIB N-acetyl-alpha-glucosaminidase newborn screening

A Child Presenting with Mucopolysaccharidosis: 《Case Reports in Clinical Medicine》2022年第8期337-353,共16页Ntombizodwa Madi Fatima Yakoub Moosa Kebashni Thandrayen; The lysosomal storage disorders are a group of diseases that are typified by an accumulation of waste products in the lysosomes. Mucopolysaccharidoses are lysosomal storage disorders due to diverse lysosomal enzyme de...; 关键词：MUCOPOLYSACCHARIDOSIS Lysosomal Storage Disorders Maroteaux-Lamy Syndrome

Study on genetic etiology of two patients with mucopolysaccharidosis using whole-exome sequencing: 《China Medical Abstracts(Internal Medicine)》2022年第1期29-30,共2页QIN Tiantian; Objective To explore the underlying genetic cause in two patients with mucopolysaccharidosis(MPS)using the whole-exome sequencing.Methods Genomic DNA was extracted from the peripheral blood of two patients with MPS an...; 关键词：PATIENTS ETIOLOGY filtered

Angle-closure glaucoma with attenuated mucopolysaccharidosis typeⅠin a Chinese family: 《International Journal of Ophthalmology(English edition)》2021年第11期1799-1801,共3页Yan Liu Li Dai Ran Long Fu Quan Chao Gu Ling Yu; Supported by the National Natural Science Foundation of China(No.81570841);the Southwest Medical University Affiliated Hospital Foundation(No.16004)。; Dear Editor,I am Dr.Yan Liu,from the Department of Ophthalmology,the Afliated Hospital of Southwest Medical University,Luzhou,China.I write to present a rare case of angle-closure glaucoma(ACG)with attenuated mucopoly...; 关键词：CLOSURE GLAUCOMA China

A boy with mucopolysaccharidosis type Ⅱ accompanied with a novel variation in heparan-N-sulfatase: 《Chinese Medical Journal》2019年第18期2254-2256,共3页Yu-Jue Li Xue-Yang Tang Yang Meng Guo-Jing Luo Xi-Jie Yu; This work was supported by grants from the National Natural Science Foundation of China (Nos.81770875, 81702156, 81572639);the Science and Technology Department of Sichuan Province (No.2018SZ0142);Postdoctoral Science Foundation of China (No.2017M61060);the Sichuan University (Nos. 2018SCUH0093, 2017SCU12038).; To the Editor:The mucopolysaccharidosis (MPS) disorders are a group of rare,inherited lysosomal storage disorders in which progressive cellular accumulation of glycosaminoglycans (GAGs) caused by lysosomal enzyme defi...; 关键词：MUCOPOLYSACCHARIDOSIS LYSOSOMAL enzyme storage disorders

Successful spinal anesthesia in a patient with mucopolysaccharidosis type I under femoral fracture reduction and external fixation被引量：2: 《Pediatric Investigation》2019年第1期55-57,共3页Lan Sun Jianmin Zhang Xin Zhao; Introduction:Mucopolysaccharidosis(MPS)is an inherited lysosomal storage disorders with glycosaminoglycans accumulation in tissues.MPS patients undergoing intratracheal intubation anesthesia show high mortality,with s...; 关键词：MUCOPOLYSACCHARIDOSIS CHILDREN Spinal anesthesia SEVOFLURANE Airway management

Update of the spectrum of mucopolysaccharidoses type Ⅲ in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations: 《World Journal of Pediatrics》2017年第4期374-380,共7页Souad Ouesleti Maria Francisca Coutinho Isaura Ribeiro Abdehedi Miled Dalila Saidane Mosbahi Sandra Alves; Background:Mucopolysaccharidoses type Ⅲ (MPS Ⅲ) are a group of autosomai recessive lysosomal storage diseases,caused by mutations in genes that code for enzymes involved in the lysosomal degradation of heparan sulph...; 关键词：MOLECULAR characterization MUCOPOLYSACCHARIDOSIS Ⅲ MUTATION

Biology of hyaluronan: Insights from genetic disorders of hyaluronan metabolism: 《World Journal of Biological Chemistry》2015年第3期110-120,共11页Barbara Triggs-Raine Marvin R Natowicz; Supported by Canadian Institutes of Health Research(to Triggs-Raine B); Hyaluronan is a rapidly turned over component of the vertebrate extracellular matrix. Its levels are determined, in part, by the hyaluronan synthases, HAS1, HAS2, and HAS3, and three hyaluronidases, HYAL1, HYAL2 and H...; 关键词：HYALURONIDASE HYALURONAN HYALURONIDASE 1 MUCOPOLYSACCHARIDOSIS HYALURONIDASE 2 HYALURONAN SYNTHASE 2

Growth patterns in children with mucopolysaccharidosis Ⅰ and Ⅱ: 《World Journal of Pediatrics》2015年第3期226-231,共6页Agnieszka Rózdzynska-Swiatkowska Agnieszka Jurecka Joachim Cieslik Anna Tylki-Szymanska; Background:Mucopolysaccharidosis(MPS)diseases lead to a profound disruption in normal mechanisms of growth and development.This study was undertaken to determine the general growth of children with MPS I and II.Method...; 关键词：anthropometric features longitudinal study mucopolysaccharidosisⅠ mucopolysaccharidosisⅡ

MUCOPOLYSACCHARIDOSIS