Results 51 to 60 of about 7,143 (200)

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience

International Journal of Neonatal Screening, 2020
There have been significant advances allowing for the integration of mucopolysaccharidosis I into newborn screening programs. Initial experiences using a single-tier approach for this disorder have highlighted shortcomings that require immediate ...
Lorne A. Clarke, Patricia Dickson, N. Matthew Ellinwood, Terri L. Klein   +3 more
doaj   +1 more source

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II [PDF]

, 2011
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS).
Latifa Chkioua, Souhir Khedhiri, Salima Ferchichi, Rémy Tcheng, Henda Chahed, Roseline Froissart, Christine Vianey-Saban, Sandrine Laradi, Abdelhedi Miled   +8 more
core   +2 more sources

Intrathecal idursulfase‐IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single‐arm, open‐label, phase 2/3 substudy and extension

JIMD Reports, Volume 67, Issue 2, March 2026.
Abstract Data from a phase 2/3, randomized, controlled, open‐label, multicenter trial in children with neuronopathic mucopolysaccharidosis II (MPS II; Hunter syndrome) older than 3 years suggested a benefit of intrathecal idursulfase‐IT on cognitive functioning in some patients. We describe a separate, parallel, open‐label, single‐arm, 52‐week substudy
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

Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses

Diagnostics, 2020
Interest in newborn screening for mucopolysaccharidoses (MPS) is growing, due in part to ongoing efforts to develop new therapies for these disorders and new screening assays to identify increased risk for the individual MPSs on the basis of deficiency ...
Rajendra Singh, Shaileja Chopra, Carrie Graham, Melissa Langer, Rainer Ng, Anirudh J. Ullal, Vamsee K. Pamula   +6 more
doaj   +1 more source

Assessment and management of over-activity and sleep disorder in mucopolysaccharidoses [PDF]

, 2018
There is a growing awareness, based on both research and clinical studies, that abnormal sleep and circadian functioning are associated with the various forms of mucopolysaccharidoses (MPS), with sleep respiratory problems seemingly common in many forms ...
Hare, Dougal, Mahon, Louise, Rust, Stewart   +2 more
core   +2 more sources

Cardiac Involvement in Pediatric Mucopolysaccharidoses Patients and their Genetic Profile: A Retrospective Single-center Study

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging
Background: Mucopolysaccharidoses (MPS) are rare metabolic disorders of monogenic inheritance, with varying degrees of cardiac involvement due to undegraded glycosaminoglycans getting aggregated in the spongiosa of the cardiac valves, the myocardium, and
Shruti Irene Varghese, Joshua Abishek Christudoss, Rekha Aaron, Sumita Danda, Jesu Krupa   +4 more
doaj   +1 more source

Ameloblastoma in a Three-Year-Old Child with Hurler Syndrome (Mucopolysaccharidosis Type I)

Reports, 2022
Mucopolysaccharidoses (MPS) are a family of genetic diseases associated with a deficiency of alpha-L iduronidase, which causes a lack of catabolism of glycosaminoglycans (GAGs).
Mattia Di Bartolomeo, Arrigo Pellacani, Sara Negrello, Martina Buchignani, Riccardo Nocini, Gianluca Di Massa, Greta Gianotti, Giuseppe Pollastri, Giacomo Colletti, Luigi Chiarini, Alexandre Anesi   +10 more
doaj   +1 more source

Synthetic genistein derivatives as modulators of glycosaminoglycan synthesis [PDF]

, 2012
Background: Mucopolysaccharidoses (MPS) are severe metabolic disorders caused by 26 accumulation of undegraded glycosaminoglycans (GAGs) in lysosomes due to defects in certain 27 lysosomal hydrolases. Substrate reduction therapy (SRT) has been proposed
Gabig-Cimińska, Magdalena, Grynkiewicz, Grzegorz, Jakóbkiewicz-Banecka, Joanna, Kloska, Anna, Narajczyk, Magdalena, Szeja, Władysław, Węgrzyn, Grzegorz   +6 more
core   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source