Results 121 to 130 of about 335,224 (186)

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

, 2020
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam, Ancona, Devin, Bannasch, Danika, Brown, C. Titus, Cowan, Tina, Knipe, Marguerite, Mansour, Tamer, Moore, Bret, Seada, Haitham, Sebbag, Lionel, Sebbag, Lionel, Thomasy, Sara, Vernau, Karen, Woolard, Kevin   +13 more
core   +3 more sources

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

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  

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

Human Mutation, 2015
Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N‐acetylgalactosamine‐6‐sulfatase (GALNS), encoded by the GALNS gene.
A. Caciotti, Rodolfo Tonin, M. Rigoldi, L. Ferri, S. Catarzi, C. Cavicchi, E. Procopio, M. Donati, A. Ficcadenti, A. Fiumara, R. Barone, L. Garavelli, M. Rocco, M. Filocamo, D. Antuzzi, M. Scarpa, S. Mooney, Biao Li, A. Skouma, S. Bianca, D. Concolino, R. Casalone, E. Monti, M. Pantaleo, S. Giglio, R. Guerrini, R. Parini, A. Morrone   +27 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  

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

Hinge abduction hip dysplasia in (morquio a syndrome) treated by proximal femoral valgization osteotomy: a rare case report. [PDF]

Ann Med Surg (Lond), 2023
Alkhateeb A, Aboujaib MF.
europepmc   +1 more source

Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene [PDF]

Balkan Med J, 2022
Pajic MD, Kavecan II, Maksimovic JM, Babovic SS, Bojadzieva Stojanoska BT.   +4 more
europepmc   +1 more source