Results 101 to 110 of about 32,710 (240)

Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I

JIMD Reports, 2020
Orthopedic disease progresses in mucopolysaccharidosis type I (MPS I), even with approved therapies and remains a major factor in persistent suffering and disability. Novel therapies and accurate predictors of response are needed.
T. Lund, T. M. Doherty, J. Eisengart, R. Freese, K. Rudser, E. Fung, B. Miller, K. White, P. Orchard, C. Whitley, L. Polgreen   +10 more
semanticscholar   +1 more source

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure [PDF]

, 2017
The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging.
Adams, H.R. (Heather R.), Clarke, L.A. (L.), Ebbink, B.J. (Johanneke), Escolar, M.L. (Maria L.), Giugliani, R. (Roberto), Harmatz, P. (Paul), Hogan, M. (Melissa), Janzen, D. (Darren), Jones, S.A. (Simon), Kearney, S. (Shauna), Lee, J.H. (Johanna) van der, Morton, J. (Jonathan), Muenzer, J. (Joseph), Rust, S. (Stewart), Semrud-Clikeman, M. (Margaret), Shapiro, E. (Elsa), Wijburg, F.A. (Frits), Yu, Z.-F. (Zi-fan)   +17 more
core   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +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

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

JIMD Reports, 2020
Background Morquio‐B disease (MBD) is a distinct GLB1‐related dysostosis multiplex involving the trabecular parts of long bones and spine, presenting a mild phenocopy of GALNS‐related Morquio‐A disease.
Iman S. Abumansour, Nataliya Yuskiv, Eduard Paschke, Sylvia Stockler‐Ipsiroglu   +3 more
doaj   +1 more source

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

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

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Design and validation of a GMP stem cell manufacturing protocol for MPSII hematopoietic stem cell gene therapy

Molecular Therapy: Methods & Clinical Development
Hematopoietic stem cell gene therapy (HSCGT) is a promising therapeutic strategy for the treatment of neurodegenerative, metabolic disorders. The approach involves the ex vivo introduction of a missing gene into patients’ own stem cells via lentiviral ...
Stuart Ellison, Karen Buckland, Yuko Learmonth, Victoria Day, Spandan Kalra, Lauren Howe, Francisco José Roman-Rodriguez, Jose Bonafont, Laura Booth, Rebecca Holley, Jon Smythe, Simon Jones, Adrian Thrasher, Claire Booth, Brian W. Bigger   +14 more
doaj   +1 more source