Results 101 to 110 of about 1,451,354 (224)

Processes for Developing Plain Language Versions of Guidelines Recommendations: A Scoping Review

Journal of Evaluation in Clinical Practice, Volume 31, Issue 6, September 2025.
ABSTRACT Rationale Plain language recommendations (PLRs) offer clear and understandable statements based on trustworthy guidelines. Objective We aimed to synthesise methodological evidence for developing PLRs in the health care context. Methods We followed the JBI methodology for scoping review development and the PRISMA‐ScR guidelines for scoping ...
Alena Langaufova, Tereza Friessova, Dana Dolanova, Tereza Vrbova, Petra Burilova, Natalia Beharkova, Andrea Pokorna   +6 more
wiley   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

JIMD Reports, Volume 66, Issue 4, July 2025.
Schematic illustrating the study design and key findings. Figure created in Biorender.com. ABSTRACT Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem neurodegenerative disease caused by biallelic pathogenic variants in SLC17A5, encoding sialin.
Marya S. Sabir, Laura Pollard, Lynne Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang, Frances M. Platt, Marjan Huizing, William A. Gahl, May Christine V. Malicdan   +9 more
wiley   +1 more source

Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]

, 2013
Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
core  

Respiratory and sleep disorders in mucopolysaccharidosis [PDF]

, 2012
MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues.
Ciarán McArdle, David M. Rapoport, Karen A. Hardy, Kenneth I. Berger, Kuo Sheng Lee, Martin J. Tobin, Maurizio Scarpa, Roberto Giugliani, Simone C. Fagondes, Susan A. Ward   +9 more
core   +1 more source

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome)

African Journal of Paediatric Surgery, 2016
Background: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS) type IV (Morquio′s syndrome).
Ali Al Kaissi, Vladimir Kenis, Eugeniy Melchenko, Maher Ben Ghachem, Robert Csepan, Franz Grill, Rudolf Ganger   +6 more
doaj   +1 more source

Anaesthesia and airway management in mucopolysaccharidosis [PDF]

, 2013
This paper provides a detailed overview and dis-cussion of anaesthesia in patients with mucopolysacchari-dosis (MPS), the evaluation of risk factors in these patients and their anaesthetic management, including emergency airway issues.
A Hirth, A John, AM Martins, AM McLaughlin, AM Rovelli, AO Ransford, AR Alpöz, Barbara Valdemarsson, C Moores, CF Wippermann, CJ Pelley, CM Myer III, E Dilber, EA Braunlin, EA Braunlin, Elizabeth A. Braunlin, G Miller, GL Semenza, GN Leal, Guirish A. Solanki, Henrik Hack, HS Jeong, HS Sims, I Misumi, Iain A. Bruce, J Muenzer, JA Thorne, JE Wraith, JH Dangel, K Kirkpatrick, KG Belani, Kumar G. Belani, L Broek Van den, LA Fleisher, MA Simmons, MC Theroux, MS Kurdi, MS Muhlebach, NJ Mendelsohn, P Arn, P Arn, Paul R. Harmatz, PJ Orchard, PM Ingelmo, PP Walker, R Giugliani, R Nagano, R Rowe, Richard Rowe, RO Bonow, Robert Walker, RWM Walker, RWM Walker, RWM Walker, SD Murgu, SEJ Leighton, Simon Jones, SL Shih, SM Wold, T Hishitani, TR Kimball, U Linstedt, UR Mohan, V Fesslová, V Tandon, V Valayannopoulos, W Kamin, WJ Buhain   +67 more
core   +4 more sources

Intrathecal or intravenous AAV9-IDUA/RGX-111 at minimal effective dose prevents cardiac, skeletal and neurologic manifestations of murine MPS I

Molecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis type I (MPS I) is a rare metabolic disorder caused by deficiency of α-L-iduronidase (IDUA), resulting in glycosaminoglycan (GAG) accumulation and multisystemic disease.
Lalitha R. Belur, Avery K. Huber, Hillary Mantone, Mason Robertson, Miles C. Smith, Andrea D. Karlen, Kelley F. Kitto, Li Ou, Chester B. Whitley, Elizabeth Braunlin, Justin Furcich, Troy C. Lund, Davis Seelig, Carolyn A. Fairbanks, Nicholas Buss, Kwi Hye Kim, R. Scott McIvor   +16 more
doaj   +1 more source

Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases [PDF]

, 2017
Lysosomal storage disorders (LSDs) are inherited diseases characterized by lysosomal dysfunction and often showing a neurodegenerative course. There is no cure to treat the central nervous system in LSDs.
Alessandro Fraldi, Elvira De Leonibus, Irene Sambri, Lucio Annunziato, Maria De Risi, Mauro Cataldi, Nicolina Cristina Sorrentino, Rosa D'Alessio, Roy S, Suzuki K, Teresa Giuliano, Vincenzo Cacace, Yulia Ezhova   +12 more
core   +1 more source

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII

Case Reports in Pediatrics, 2017
We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis.
Hazim Kadhim, Valérie Segers, Catheline Vilain, Julie Désir, Nicky D’Haene   +4 more
doaj   +1 more source