Results 61 to 70 of about 335,217 (205)

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. [PDF]

, 2015
The primary treatment outcomes of a phase 2, randomized, double-blind, pilot study evaluating safety, physiological, and pharmacological effects of elosulfase alfa in patients with Morquio A syndrome are herewith presented.
Berger, Kenneth I, Burton, Barbara K, Genter, Fred, Harmatz, Paul, Jones, Simon A, Lau, Heather, Lewis, Gregory D, Mitchell, John J, Muschol, Nicole, Pastores, Gregory M, Shaywitz, Adam J, Sparkes, Rebecca, Sutton, V Reid, Tarnopolsky, Mark, Treadwell, Marsha   +14 more
core   +1 more source

General anaesthesia in an adult patient with Morquio syndrome with emphasis on airway issues

Biomolecules & Biomedicine, 2012
Patients with Morquio syndrome possess a number of characteristics which may complicate an anaesthetic procedure. The most important is that a deposition of mucopolysaccharides in the soft tissues of the oro-pharynx distorts the airway, making the airway
Lajla Kadić, Jacques J. Driessen
doaj   +1 more source

Diagnosing mucopolysaccharidosis IVA [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of
A Fujimoto, A James, A Megarbane, A Ohashi, A Tylki-Szymanska, AI Arbisser, AL Beaudet, AM Montano, AN Doman, Andrea Schenone, C Prat, CA Pennock, CB Whitley, CB Whitley, CG Summers, Christian J. Hendriksz, Chunli Yu, D Krakow, David Ketteridge, DH Cohn, DW Hollister, E Baker, E Wessler, EF Neufeld, G Gray, G Kohn, G Nishimura, GR Fraser, H Groebe, H Northover, H Zhao, Heather J. Church, HV Dyggve, J Glossl, J Glossl, J Muenzer, J Nelson, J Singh, J Spranger, JE Wraith, JE Wraith, Jerry N. Thompson, JG Jong de, JG Jong de, JJ Hopwood, JN Isenberg, JP Hintze, K Longdon, K Nakamura, K Ullrich, Karen Tylee, Katie Harvey, LA Martell, LS Levin, M Aldenhoven, M Beck, M Burin, M Masuno, M Piraud, M Shohat, Maira Graeff Burin, Marzia Pasquali, Michael Beck, Michael Fietz, MP Whyte, MV Camelier, Nicole Miller, OP Diggelen van, Otto P. van Diggelen, P Harmatz, Paul Harmatz, R Hata, R Humbel, R Lawrence, R Matalon, Roberto Giugliani, S Catarzi, S Chaisomchit, S Fukuda, S Gosele, S Pajares, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, Sara M. Hawley, SB Frazier, T Dierks, T Khaliq, T Oguma, T Wood, T Yutaka, TA Duffey, Timothy C. Wood, TJ Lehman, V El Ghouzzi, VA McKusick, Vânia D’Almeida, W Holzgreve, WJ Kleijer, Wuh-Liang Hwu, Y Miyamoto, Y Nakashima, Yin-Hsiu Chien, Zoltan Lukacs, ZS Gucev   +106 more
core   +4 more sources

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome [PDF]

, 2016
OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome.
AlSayed, MD, Berger, KI, Burton, BK, Decker, C, Giugliani, R, Guelbert, N, Harmatz, PR, Hendriksz, CJ, Hughes, DA, Jurecki, E, Matousek, R, Mitchell, JJ, Parini, R, Raiman, J, Stewart, F   +14 more
core   +2 more sources

Morquios Syndrome: A Rare Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2013
Morquio’s syndrome is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-6-sulfate. It was first described in 1929 by Morquio and Brailsford. Morquio’s syndrome is characterized by a defect in the degradation of keratin sulfate resulting in the accumulation of mucopolysaccharides.
Vidya Sagar Mopagar, Mithesh D Kathariya, T Umapathy, T Premkishore, Chandrashekar, Ashish Raurale   +5 more
openaire   +2 more sources

A case of two siblings with Morquio syndrome

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2021
Morquio syndrome (Type IV mucopolysaccharidosis) is an autosomal recessive condition with a prevalence of 1:40000 to 1:200000.1 The deficiencies of N-acetyl-galactosamine-6-sulfatase and beta-galactosidase leads to accumulation of glycosaminoglycan resulting Morquio syndrome type A and B respectively. Here, we report a case of two siblings with Morquio
I. Kankananarachchi, S. Amarasena
openaire   +2 more sources

Development of Bone Targeting Drugs. [PDF]

, 2017
The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that affect the skeletal system can be difficult to treat, mainly because of the avascular cartilage
Alméciga-Díaz, Carlos J., Mackenzie, William G., Mason, Robert W., Orii, Tadao, Sawamoto, Kazuki, Stapleton, Molly, Tomatsu, Shunji   +6 more
core   +2 more sources

Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center

Molecular Genetics and Metabolism Reports, 2020
Introduction: Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the ...
Andrés Felipe Erazo-Narváez, Juan Manuel Muñoz-Vidal, Guillermo Hernando Rodríguez-Vélez, María Amparo Acosta-Aragón   +3 more
doaj   +1 more source

Successful airway management with King Vision device in a child with Morquio syndrome: case report

Revista de la Facultad de Ciencias de la Salud, 2017
Morquio syndrome also called type IV mucopolysaccharidosis, is a condition produced by lysosomal deposit. Morquio syndrome have several implications in the airway management because is characterized by C1-C2, instability, short height, cervical spine ...
Lina Maritza Guerra, Mario Andrés Zamudio, Jonny Arbey Salazar   +2 more
doaj   +2 more sources

Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks

Journal of Inborn Errors of Metabolism and Screening, 2017
Patients with mucopolysaccharidosis (MPS), and Morquio A syndrome (MPS IVA) in particular, often report substantial pain burden. MOR-008 was a randomized, double-blind, pilot study assessing the safety and efficacy, including impact on patient-reported ...
Marsha Treadwell, Paul R. Harmatz, Barbara K. Burton, John J. Mitchell, Nicole Muschol, Simon A. Jones, Gregory M. Pastores, Heather A. Lau, Rebecca Sparkes, V. Reid Sutton, Bianca Meesen, Christine A. Haller, Adam J. Shaywitz, Jeffrey I. Gold   +13 more
doaj   +1 more source