Results 81 to 90 of about 2,839 (212)

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation

Scientific Reports, 2023
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body.
Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Masafumi Onodera, Shuji Takada   +4 more
doaj   +1 more source

Intellectual disability: A potentially treatable condition

Journal of Paediatrics and Child Health, Volume 60, Issue 7, Page 273-278, July 2024.
The application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual disability and improved our understanding of the neuronal processes that result in cognitive impairment. Meanwhile, families are building rare disease communities and seeking disease‐specific treatments to change the trajectory of health and ...
Sarah E Donoghue, David J Amor
wiley   +1 more source

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II

BMC Medical Genomics, 2021
Background Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS).
Chuan Zhang, Shengju Hao, ZhaoYan Meng, Ling Hui, Yan Wang, Feng Xuan, Xue Chen, Xing Wang, Furong Zheng, Lei Zheng, Bingbo Zhou, Xinqi Wu, Qinghua Zhang, Zongfu Cao   +13 more
doaj   +1 more source

Implementation of an Affordable Method for MPS Diagnosis from Urine Screening to Enzymatic Confirmation: Results of a Pilot Study in Morocco [PDF]

, 2020
Background: Rapid and accurate diagnosis of mucopolysaccharidoses (MPS) is still a challenge due to poor access to screening and diagnostic methods and to their extensive clinical heterogeneity.
Aldámiz Echevarria, Luis, Andrade, Fernando, Bennaoui, Fatiha, Boualy, Brahim, Bourrahouat, Aicha, Bouskraoui, Mohammed, Daoudi, Abdellatif, Elqadiry, Rabiy, Ezoubeiri, Aicha, Fdil, Naima, Fouad, Adil, González-Lamuño Leguina, Domingo, Karim, Abdallah, Lalaoui, Abdessamad, Rada, Noureddine, Saab, Imane Ait, Sabir, Es-Said, Slitine, Nadia   +17 more
core   +1 more source

Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively‐driven reverse translation framework

Clinical and Translational Science, Volume 17, Issue 4, April 2024.
Abstract A quantitatively‐driven evaluation of existing clinical data and associated knowledge to accelerate drug discovery and development is a highly valuable approach across therapeutic areas, but remains underutilized. This is especially the case for rare diseases for which development is particularly challenging.
Robert D. Latzman, Olivia Campagne, Meera E. Modi, Marta Karas, C. J. Malanga, David A. H. Whiteman   +5 more
wiley   +1 more source

The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation [PDF]

, 2014
The adsorption of blood proteins, serum albumin (BSA), immunoglobulin G (IgG) and fibrinogen (FGN), onto model SiO2 planar surfaces coated with poly-l-lysine/heparin multilayers (PLL/HEP) has been investigated by means of ellipsometry and quartz crystal ...
Ingela Wiklund, Mireia Raluy-Callado, Wen-Hung Chen, Joseph Muenzer, Juanzhi Fang, David Whiteman   +5 more
core   +1 more source

Bioevaluation Of Heparin Oligosaccharides In Correcting Iduronate-2-Sulfatase Deficiency

, 2020
Introduction Mucopolysaccharidoses Type II is caused by an X-linked mutation in IDS gene which produce an enzyme called iduronate 2-sulfatase (IDS) that is essential for the breakdown of glycosaminoglycans. Lack of IDS enzyme activity leads to the accumulation of heparan sulfate and dermatan sulfate within the lysosomes.
Nordin, Fatimah Diana Amin, Affandi Omar, Balqis Kamarudin, Julaina Abdul Jalil   +3 more
openaire   +1 more source

In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer [PDF]

Gene Therapy, 1997
Hunter syndrome is a lethal lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase and characterized by severe skeletal and neurological symptoms. Only symptomatic treatments are available and, although bone marrow transplantation has been suggested, no encouraging results have been obtained so far.
DIFRANCESCO C, CRACCO C, TOMANIN R, PICCI L, VENTURA L, ZACCHELLO, FRANCO, DINATALE P, ANSON DS, HOPWOOD JJ, GRAHAM FL, SCARPA, MAURIZIO   +10 more
openaire   +3 more sources

Low expression of TGF‐β2 and matrilin2 in human aqueous humour with acute primary angle closure

Journal of Cellular and Molecular Medicine, Volume 28, Issue 3, February 2024.
Abstract Primary angle‐closure glaucoma (PACG) is the leading cause of irreversible blindness in the world. Angle closure induced by pupil block and secondary iris synechia is the fundamental pathology of the PACG. The molecular mechanisms of angle closure have not yet been clearly illustrated.
Liming Wang, Zhao Xu, Yaru Hong, Yan Liu, Xiaomin Zhang, Qiang Feng, Dandan Zhang, Kexi Chen, Guli Humaer Yiming, Xiaorong Li, Aihua Liu, Lijie Dong   +11 more
wiley   +1 more source

Development of the multi-attribute Adolescent Health Utility Measure (AHUM) [PDF]

, 2012
Objective Obtain utilities (preferences) for a generalizable set of health states experienced by older children and adolescents who receive therapy for chronic health conditions.
Beusterien, K. M., Brazier, J., Pang, F., Yeung, J-E.   +3 more
core   +2 more sources