Zobrazeno 1 - 10
of 404
pro vyhledávání: '"MPS I"'
Autor:
Lalitha R. Belur, Avery K. Huber, Hillary Mantone, Mason Robertson, Miles C. Smith, Andrea D. Karlen, Kelley F. Kitto, Li Ou, Chester B. Whitley, Elizabeth Braunlin, Justin Furcich, Troy C. Lund, Davis Seelig, Carolyn A. Fairbanks, Nicholas Buss, Kwi Hye Kim, R. Scott McIvor
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 4, Pp 101369- (2024)
Mucopolysaccharidosis type I (MPS I) is a rare metabolic disorder caused by deficiency of α-L-iduronidase (IDUA), resulting in glycosaminoglycan (GAG) accumulation and multisystemic disease. Current treatments include hematopoietic stem cell transpl
Externí odkaz:
https://doaj.org/article/03d89651f88d4d478f8e98a618f31356
Autor:
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases. These challenges can result in
Externí odkaz:
https://doaj.org/article/d2e571d283e8449eb9ed832dcb478784
Autor:
Belur, Lalitha R. 1, ∗, Huber, Avery K. 1, Mantone, Hillary 1, Robertson, Mason 1, Smith, Miles C. 1, Karlen, Andrea D. 1, Kitto, Kelley F. 4, Ou, Li 2, Whitley, Chester B. 2, Braunlin, Elizabeth 2, Furcich, Justin 2, Lund, Troy C. 2, Seelig, Davis 3, Fairbanks, Carolyn A. 4, Buss, Nicholas 5, Kim, Kwi Hye 5, McIvor, R. Scott 1
Publikováno v:
In Molecular Therapy - Methods & Clinical Development 12 December 2024 32(4)
Autor:
Pascale Tuyaa-Boustugue, Ingrid Jantzen, Haoyue Zhang, Sarah P. Young, Pierre Broqua, Mireille Tallandier, Eugeni Entchev
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101011- (2023)
Deficiencies of lysosomal enzymes responsible for the degradation of glycosaminoglycans (GAG) cause pathologies commonly known as the mucopolysaccharidoses (MPS). Each type of MPS is caused by a deficiency in a specific GAG-degrading enzyme and is ch
Externí odkaz:
https://doaj.org/article/39015b4be7194098910689d76cf2f4c1
Akademický článek
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Autor:
Xiu Jin, Jing Su, Qinyu Zhao, Ruiting Li, Jianlu Xiao, Xiaomei Zhong, Li Song, Yi Liu, Kaiqin She, Hongxin Deng, Yuquan Wei, Yang Yang
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 370-381 (2022)
Mucopolysaccharidosis type I-Hurler (MPS I-H) is a neurodegenerative lysosomal storage disorder (LSD) caused by inherited defects of the α-L-iduronidase (IDUA) gene. Current treatments are ineffective for treating central nervous system (CNS) manife
Externí odkaz:
https://doaj.org/article/b79b3ec1851841d8bf8f9ad802dc0a45
Autor:
Havva Yazıcı, Ebru Canda, Esra Er, Baris Malbora, Burcu Ozturk Hismi, Huseyin Onay, Serap Aksoylar, Sema Kalkan Uçar, Ferda Ozkinay, Mahmut Çoker
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 11, Iss 2, Pp 198-201 (2021)
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the 'α-L-iduronidase'. The clinical manifestations concern multisystemic involvement. There are two disease modifying therapies, enzym
Externí odkaz:
https://doaj.org/article/c49c72c8015242dba0594fd927bce364
Autor:
Changrui Xiao, Mary Koziura, Heidi Cope, Rebecca Spillman, Khoon Tan, Fuki M. Hisama, Cynthia J. Tifft, Camilo Toro
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract Objectives To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN). Methods Retrospective review of both application and evaluation
Externí odkaz:
https://doaj.org/article/3eac85704c3a490293b000c15c889f13
Autor:
Alkhzouz Camelia, Lazea Cecilia, Miclea Diana, Asavoaie Carmen, Nascu Ioana, Pop Tudor, Grigorescu-Sido Paula
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 28, Iss 3, Pp 279-286 (2020)
Background: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of α-L-iduronidase (IDUA), which leads to the accumulation of partially digested glycosaminoglycans (dermatan sulfate and he
Externí odkaz:
https://doaj.org/article/59155cf3791f4b3f85b26acf74ca737e
Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report
Autor:
Ali Alsuheel Asseri, Ahmad Alzoani, Abdulwahab M. Almazkary, Nisreen Abdulaziz, Mufareh H. Almazkary, Samy Ailan Alahmari, Arul J. Duraisamy, Shruti Sureshkumar
Publikováno v:
Diseases, Vol 11, Iss 2, p 67 (2023)
Mucopolysaccharidosis type I (MPS I) is a rare inherited autosomal recessive lysosomal storage disorder. Despite several reports on MPS I-related neonatal interstitial lung disease, it is still considered to be an under-recognized disease manifestati
Externí odkaz:
https://doaj.org/article/e802cf3140bc437fbcd8b482146fbd17