Results 71 to 80 of about 2,254 (171)

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

Case Reports in Medicine, 2013
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate.
Albina Tummolo, Orazio Gabrielli, Alberto Gaeta, Maristella Masciopinto, Lucia Zampini, Luigi Michele Pavone, Paola Di Natale, Francesco Papadia   +7 more
doaj   +1 more source

The characterisation of pulmonary function in patients with mucopolysaccharidoses IVA: A longitudinal analysis

Molecular Genetics and Metabolism Reports, 2019
Introduction: Mucopolysaccharidosis (MPS) type IVA is a rare, autosomal recessive lysosomal storage disease causing substrate accumulation in various organs and tissues. MPS IVA is associated with both obstructive and restrictive airway disease, with the
Johnny J. Kenth, Gabrielle Thompson, Catherine Fullwood, Stuart Wilkinson, Simon Jones, I.A. Bruce   +5 more
doaj   +1 more source

Adjunct diagnostic value of radiological findings in mucopolysaccharidosis type IVa-related thoracic spinal abnormalities: a pilot study

Orphanet Journal of Rare Diseases, 2022
Background In patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arrests irreversible neurological ...
Ya-Ting Jan, Pei-Shan Tsai, Wen-Hui Huang, Shih-Chieh Huang, Yu-Peng Liu, She-Meng Cheng, Kun-Shuo Huang   +6 more
doaj   +1 more source

Progression of cardiovascular manifestations in adults and children with mucopolysaccharidoses with and without enzyme replacement therapy [PDF]

, 2022
Background: Cardiovascular involvement is among the main features of MPS disorders and it is also a significant cause of morbidity and mortality. The range of manifestations includes cardiac valve disease, conduction abnormalities, left ventricular ...
Baldo, Guilherme, Berger, Solano Vinicius, Giugliani, Roberto, Poswar, Fabiano de Oliveira, Santos, Hallana Souza, Santos, Ângela Barreto Santiago, Souza, Carolina Fischinger Moura de   +6 more
core   +1 more source

Elosulfase alfa for mucopolysaccharidosis type IVA

, 2018
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the experience of seven pediatric MPS-IVA patients from the Spanish Morquio-A Early Access Program.
Pintos-Morell, Guillem, Blasco Alonso, Javier, Couce, María L., Gutiérrez-Solana, Luís G., Guillén-Navarro, Encarna, O'Callaghan, Mar, del Toro, Mireia, Universitat Autònoma de Barcelona   +7 more
openaire   +2 more sources

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

Diagnostics, 2020
Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body
Agnieszka Różdżyńska-Świątkowska, Krzysztof Szklanny, Jolanta Marucha, Anna Tylki-Szymańska   +3 more
doaj   +1 more source

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

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  

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

Loss of carbohydrate sulfotransferase 6 function leads to macular corneal dystrophy phenotypes and skeletal defects in zebrafish

The FEBS Journal, Volume 292, Issue 2, Page 373-390, January 2025.
Macular corneal dystrophy (MCD) is a rare disease leading to blindness. Here, the first preclinical MCD model was developed via the generation of carbohydrate sulfotransferase 6 (chst6) mutant zebrafish lines with CRISPR/Cas9 technology. Opaque aggregates typical of the disease were formed in the mutant fish eyes, and sulfated keratan sulfates were ...
Merve Basol, Esra Ersoz‐Gulseven, Helin Ozaktas, Sibel Kalyoncu, Canan Asli Utine, Gulcin Cakan‐Akdogan   +5 more
wiley   +1 more source