Results 121 to 130 of about 335,217 (205)

Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs) [PDF]

, 2015
Purpose: To describe the clinical features of electric powered indoor/outdoor wheelchair (EPIOC) users with rare diseases (RD) impacting on EPIOC provision and seating. Method: Retrospective review by a consultant in rehabilitation medicine of electronic
Andrew O. Frank, Beauchamp M, British Society of Rehabilitation Medicine, Department of Health, Fortini D, Frank AO, Frank AO, Gibilisco P, Kodama TK., Leigh PN, Lorraine H. De Souza, Mangin D, Matallana AM, Rare Disease UK, Rare Disease UK, Rare Disease UK., Rare Disease UK., Rare Diseases UK., Schoser B   +18 more
core   +3 more sources

Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three-Year Follow-Up

Case Reports in Dentistry, 2020
Mucopolysaccharidosis type IV A or Morquio syndrome is an uncommon inherited metabolic condition caused by the deficient intralysosomal storage of glycosaminoglycans.
Andrea Gómez-González, Miguel Ángel Rosales-Berber, Paola De Ávila-Rojas, Amaury Pozos-Guillén, Arturo Garrocho-Rangel   +4 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  

Mucopolysaccharidosis Type IVa (Morquio Syndrome) Clinical Features and Management: Case Report

Medicine and Clinical Science
Mucopolysaccharidosis type IV A (MPS IV A), often referred to as Morquio syndrome, is a rare genetic disease characterised by an autosomal recessive deficiency in N-acetylgalactosamine-6-sulfatase (GALNS), which results in the accumulation of ...
Fouad Althobaiti, Alkhulaisi Shatha, Muaath H Alzahrani   +2 more
semanticscholar   +1 more source

Natural history of Morquio A patient with tracheal obstruction from birth to death

Molecular Genetics and Metabolism Reports, 2018
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan ...
Caitlin Doherty, Lauren W. Averill, Mary Theroux, William G. Mackenzie, Christian Pizarro, Robert W. Mason, Shunji Tomatsu   +6 more
doaj   +1 more source

Une mère et ses deux filles jumelles univitellines atteintes de chondrodysplasie [PDF]

, 2017
Till to-day there are very few concordant and discordant twin pairs known with regard to chondrodysplasy. We describe here a family in which as well the mother as also her both twin daughters are affected with this disturbance of development.
Pfändler, U.
core  

Anesthetic Challenges in a Patient of Morquio Syndrome Associated with Acromegaly. [PDF]

Ann Neurosci, 2022
Singh N, Sarna R, Tripathi M, Chauhan R, Kumar S.   +4 more
europepmc   +1 more source

A New Familial Chondrodystrophy Simulating Parastremmatic Dwarfism [PDF]

, 1977
Recent developments in tissue culture and enzyme analysis have made it possible to classify more precisely some of the skeletal dysplasias and to understand their pathophysiology; thus almost all seven clinical types of mucopolysaccharidoses are due to ...
Golden, Wendy L., Kodroff, Michael B., Mamunes, Peter   +2 more
core   +1 more source

Best abstracts from the APAGBI Annual Scientific Meeting 2024

Pediatric Anesthesia, Volume 35, Issue 2, Page 185-191, February 2025.
wiley   +1 more source

Mucopolysaccharidosis type IV: report of 5 cases of Morquio Syndrome. [PDF]

Radiol Case Rep, 2022
Cadena Arteaga JA, Lasso Andrade FA, Achicanoy Puchana DM, Achicanoy Puchana DF, Caicedo Morillo GN, Medina Bravo PA, Juez Neira WF, Vanegas Bastidas CR, Montoya Ríos DC, Vasquez Correa KJ, Suárez Cuéllar LC, Osorio Segura LJ.   +11 more
europepmc   +1 more source