Results 61 to 70 of about 12,452,915 (192)

Clinical utility gene card for: Mucopolysaccharidosis type II [PDF]

European Journal of Human Genetics, 2011
Authors have received research grants, honoraria for lectures at educational meetings, travel grants, and consultancy fees from Shire HGT.
Beck, Michael, Wijburg, Frits A., Gal, Andreas   +2 more
openaire   +3 more sources

Emerging Paediatric Uses of Dupilumab Beyond Approvals

Clinical &Experimental Allergy, Volume 56, Issue 10, Page 1162-1176, October 2026.
Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese, Anna Calamita, Diletta D'Angelo, Alessia Marseglia, Esther Mesa Lombardero, Sara Pedersoli, Micol Tedeschi, Mara De Amici, Sara Manti, Valeria Brazzelli, Amelia Licari, Gian Luigi Marseglia   +11 more
wiley   +1 more source

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

BMC Medical Genetics, 2020
Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated ...
L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib, S Laradi   +8 more
doaj   +1 more source

Mucopolysaccharidosis Type 1 [PDF]

, 2012
How to Cite this Article: Alaee MR. Mucopolysaccharidosis Type 1. Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):5. Pls see  PDF.
ALAEE, Mohammad Reza
core   +1 more source

Molecular Dynamics Reveals a Glycan Conformation Underlying IDUA Dysfunction in Attenuated MPS I

Journal of Cellular and Molecular Medicine, Volume 30, Issue 19, October 2026.
ABSTRACT Mucopolysaccharidosis Type I (MPS I) is a rare autosomal recessive lysosomal storage disorder caused by mutations in α‐ʟ‐iduronidase (IDUA) enzyme, a glycosylated hydrolase responsible for glycosaminoglycan (GAG) degradation. Pathogenic variants are associated with a broad clinical spectrum, from severe Hurler syndrome to attenuated Scheie ...
Maria Giovanna Eva Papadopoulos, Giuseppe Bonapace, Lorenzo Taglietti, Barbara La Ferla, Rosanna Rizzi, Michele Pitaro, Daniela Concolino, Domenico Alberga, Giuseppe Felice Mangiatordi   +8 more
wiley   +1 more source

Synaptic Proteostasis in Health and Disease

Journal of Neurochemistry, Volume 170, Issue 10, October 2026.
The localised creation and degradation of proteins at the pre and postsynaptic terminal are processes that are crucial for neuronal homeostasis. Synaptic proteostasis pathways are frequently reported as dysregulated in neurodevelopmental and neurodegenerative disorders.
Paul G. Donlin‐Asp, Emma L. Clayton
wiley   +1 more source

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey

, 2010
To use our experience with patients in the observational database HOS - the Hunter Outcome Survey - to evaluate the feasibility of home infusions of idursulfase for patients with mucopolysaccharidosis type II (MPS II)
Barbara K. Burton, Jones, SA, Burton, BK, GUFFON N, VAN DER PLOEG AT, Jane Roberts, van der Ploeg, Ans, SCARPA, MAURIZIO, BURTON BK, Guffon, N, Simon A. Jones, Feliciani, Claudio, ROBERTS J, Nathalie Guffon, Ans T. van der Ploeg, JONES SA, Roberts, J, van, der Ploeg AT, Van Der Ploeg, At   +18 more
core   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Lysosomal Dysfunction Is Associated With Intervertebral Disc Degeneration: Multiomics and Machine Learning Identify Molecular Subtypes and Hub Genes

The Journal of Gene Medicine, Volume 28, Issue 9, September 2026.
Intervertebral disc degeneration (IVDD) is linked to lysosomal dysfunction, impaired autophagic degradation, and cellular senescence. Integrating bulk and single‐cell transcriptomics with machine learning, this study identified two lysosome‐related molecular subtypes and four hub genes: HYAL1, MMD, PLD3, and ANK3.
Yang Yang, Hong Li, Yixuan Ou, Yaping Yu, Kaiqiang Sun, Shixing Chen, Chenglong Ji   +6 more
wiley   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source