Results 11 to 20 of about 21,517,347 (239)

A second reported malignancy in a patient with Morquio syndrome

Autopsy and Case Reports, 2017
Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma.
Ameer Hamza, Sidrah Khawar, Ahmad Ibrahim, Jacob Edens, Crystal Lalonde, Robert D. Danforth   +5 more
doaj   +3 more sources

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A [PDF]

Molecular Genetics and Metabolism Reports, 2022
Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and ...
Young Bae Sohn, Curtis Rogers, Jennifer Stallworth, Jessica A. Cooley Coleman, Laura Buch, Erin Jozwiak, Jo Ann Johnson, Tim Wood, Paul Harmatz, Laura Pollard, Raymond J. Louie   +10 more
doaj   +2 more sources

Anaesthetic implications in a patient with Morquio A syndrome

Journal of Neuroanaesthesiology and Critical Care, 2015
In patients with Morquio A syndrome, almost all the systems of body are affected and this has a bearing on their anaesthetic management. Herein, we describe the management of child with Morquio A syndrome with atlanto-axial dislocation who underwent ...
Charu Mahajan, K. N. Adarsha, Bhagya R. Jena, Devendra Gupta, Shashi Srivastava   +4 more
doaj   +2 more sources

Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome

Case Reports in Pediatrics, 2023
Introduction. The primary cause of death in Morquio A syndrome (mucopolysaccharidosis (MPS) IVA) is airway obstruction, brought about by an inexorable and pathognomonic multilevel airway tortuosity, buckling, and obstruction.
C. Frauenfelder, E. Maughan, J. Kenth, R. Nandi, S. Jones, R. Walker, B. Walsh, N. Muthialu, I. Bruce, R. Hewitt, C. Butler   +10 more
semanticscholar   +2 more sources

Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

Orphanet Journal of Rare Diseases, 2017
Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired quality of life, and early mortality.
Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble, Kaustuv Bhattacharya   +4 more
doaj   +2 more sources

Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome) [PDF]

Expert Review of Clinical Pharmacology, 2016
INTRODUCTION : Morquio A syndrome is a rare, autosomal recessive, lysosomal storage disorder caused bya deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS).
Christian J Hendriksz
exaly   +3 more sources

Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

Orphanet Journal of Rare Diseases, 2021
Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records.
Sebile Kılavuz, Sibel Basaran, Deniz Kor, Fatma Derya Bulut, Sevcan Erdem, Hüseyin Tuğsan Ballı, Muhammed Dağkıran, Atil Bisgin, Halise Neslihan Önenli Mungan   +8 more
doaj   +2 more sources

Construcción de un vector de expresión derivado de virus adenoasociados para corregir in vitro el defecto genético de la enfermedad de Morquio A

Biomédica: revista del Instituto Nacional de Salud, 2008
Introducción. La mucopolisacaridosis IV A (Morquio A) es una enfermedad de depósito lisosómico causada por la deficiencia en la actividad de la enzima N-acetil-galactosamina- 6-sulfato-sulfatasa que produce la acumulación intralisosómica de queratán y ...
Luis Alejandro Barrera, Mónica A. Gutiérrez, Felipe García Vallejo, Shunji Tomatsu, Flavio Cerón, Carlos J. Alméciga Díaz, Martha C. Domínguez   +6 more
doaj   +3 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   +2 more sources

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome). [PDF]

Mol Genet Metab Rep
Mucopolysaccharidosis (MPS) IVA (Morquio A syndrome) is an autosomal recessive lysosomal storage disorder caused by a mutation affecting the enzyme N-acetylgalactosamine-6-sulfatase (EC 3.1.6.4, GALNS).
Sung J, Kim I, Im M, Ahn YJ, Kim SM, Jang JH, Park HD, Jeon TY, Ko KR, Park SJ, Lee JH, Kim EY, Cheon CK, Kang E, Moon JE, Sohn YB, Lin HY, Chuang CK, Lin SP, Cho SY.   +19 more
europepmc   +2 more sources