Results 91 to 100 of about 2,595 (198)

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

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

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

Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4–7 del) in in human iduronate 2-sulfatase gene

Stem Cell Research
Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene.
Nayeon Lee, Haneul Noh, Chong Kun Cheon
doaj   +1 more source

Gene therapies for mucopolysaccharidoses

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 135-144, January 2024.
Abstract Current specific treatments for mucopolysaccharidoses (MPSs) include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). Both treatments are hampered by several limitations, including lack of efficacy on brain and skeletal manifestations, need for lifelong injections, and high costs.
Alessandro Rossi, Nicola Brunetti‐Pierri   +1 more
wiley   +1 more source

Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey

JIMD Reports, Volume 65, Issue 1, Page 17-24, January 2024.
Abstract Mucopolysaccharidosis II (MPS II) is a rare, life‐limiting lysosomal storage disease caused by reduced iduronate‐2‐sulfatase activity. Patients experience broad ranging signs and symptoms, including bone and joint manifestations. This study reported on orthopedic involvement and management in patients with MPS II using 15 years of data from ...
Bianca Link, Jaco Botha, Roberto Giugliani   +2 more
wiley   +1 more source

Hunter Syndrome Diagnosed by Otorhinolaryngologist

Case Reports in Otolaryngology, 2018
Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births.
Ayako Hashimoto, Tadayuki Kumagai, Hiroyuki Mineta   +2 more
doaj   +1 more source

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Molecular Genetics and Metabolism Reports, 2017
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter ...
Olaf Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani   +4 more
doaj   +1 more source

Predicción computacional de la estructura terciaria de la iduronato 2-sulfato sulfatasa humana [PDF]

, 2007
Introduction. Hunter syndrome (MC KUSIK 309900) or mucopolysacharidosis type II is due to the deficiency of the enzyme iduronate 2 sulfate sulfatase (E.C. 3.1.6.13). This enzyme has not been crystallized, and therefore the experimental structures are not
Barrera, Luis A., Lareo, Leonardo, Poutou, Raúl A., Sosa, Ángela C., Sáenz, Homero   +4 more
core   +3 more sources

Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type ii (hunter syndrome) [PDF]

, 2016
Background Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans.
Andriolo, Regis Bruni, Silva, Edina Mariko Koga da, Silva, Laercio Antonio da, Strufaldi, Maria Wany Louzada   +3 more
core   +2 more sources