Results 81 to 90 of about 2,595 (198)

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
Abstract Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X‐linked, heterogeneous lysosomal storage disease. Approximately two‐thirds of patients develop cognitive impairment, which is difficult to assess in clinical trials, partly owing to the variable nature of cognitive impairment.
Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis González Gutiérrez‐Solana, Matilde Ruiz‐Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar‐Feigenberg, Drago Bratkovic, Stewart Rust, Michael Hale, Yuna Wu, Karen S. Yee, David A. H. Whiteman, David Alexanderian   +14 more
wiley   +1 more source

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics, 2020
RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes, Maryana Mara Marins, Fabiana Louise Motta, Sandra Obikawa Kyosen, Marco Antonio Curiati, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +7 more
doaj   +1 more source

MicroRNA co-expression networks exhibit increased complexity in pancreatic ductal compared to Vater’s papilla adenocarcinoma [PDF]

, 2017
iRNA expression abnormalities in adenocarcinoma arising from pancreatic ductal system (PDAC) and Vater’s papilla (PVAC) could be associated with distinctive pathologic features and clinical cancer behaviours.
Andriulli, Angelo, Biagini, Tommaso, Capocefalo, Daniele, Carella, Massimo, Copetti, Massimiliano, De Bonis, Antonio, Di Sebastiano, Pierluigi, Francesco Di Mola, Fabio, Fusilli, Caterina, Maiello, Evaristo, Mastrodonato, Nicola, Mazza, Tommaso, Pazienza, Valerio, Piepoli, Ada, Tavano, Francesca   +14 more
core   +1 more source

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X‐linked lysosomal storage disease caused by reduced activity of iduronate‐2‐sulfatase (I2S), with subsequent cellular accumulation of the glycosaminoglycans (GAGs), heparan sulfate, and dermatan sulfate (DS).
Christoph Kampmann, Christina Lampe, Christiane M. Wiethoff, Laila Arash‐Kaps, Eugen Mengel, Joerg Reinke, Michael Beck, Julia B. Hennermann, Tariq Abu‐Tair   +8 more
wiley   +1 more source

Unifying biology of neurodegeneration in lysosomal storage diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 ...
Anna M. Ludlaim, Simon N. Waddington, Tristan R. McKay   +2 more
wiley   +1 more source

Gene editing in liver diseases

FEBS Letters, Volume 598, Issue 19, Page 2348-2371, October 2024.
Gene editing consists of the deliberate and precise modification of the host genome. It can be used for therapeutic purposes to treat genetic diseases, including inherited liver disorders, by inserting therapeutic genes, correcting pathogenic genes, or modulating the expression of specific genes.
Laura Torella, Nerea Santana‐Gonzalez, Nerea Zabaleta, Gloria Gonzalez Aseguinolaza   +3 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

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

Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity

Clinical Genetics, Volume 106, Issue 4, Page 505-511, October 2024.
We describe three patients with biallelic SUMF1 variants, reduced sulfatase enzyme activity, and retinal dystrophy. Phenotypes range from mild systemic manifestations to isolated ocular involvement, representing the mildest documented phenotypes associated with multiple sulfatase deficiency.
Siying Lin, Anthony G. Robson, Dorothy A. Thompson, Karolina M. Stepien, Robin Lachmann, Emma Footitt, Ola Czyz, Shwetha Chandrasekhar, Elena Schiff, Christos Iosifidis, Graeme C. Black, Michel Michaelides, Omar A. Mahroo, Gavin Arno, Andrew R. Webster   +14 more
wiley   +1 more source

A biological guide to glycosaminoglycans: current perspectives and pending questions

The FEBS Journal, Volume 291, Issue 15, Page 3331-3366, August 2024.
Mammalian glycosaminoglycans, except hyaluronan, are sulfated polysaccharides that are covalently attached to core proteins to form proteoglycans. They contribute to the organization of the extracellular matrix and are displayed at the cell surface where they regulate the availability and activity of cytokines and growth factors and cell signaling ...
Sylvie Ricard‐Blum, Romain R. Vivès, Liliana Schaefer, Martin Götte, Rosetta Merline, Alberto Passi, Paraskevi Heldin, Ana Magalhães, Celso A. Reis, Spyros S. Skandalis, Nikos K. Karamanos, Serge Perez, Dragana Nikitovic   +12 more
wiley   +1 more source