Results 41 to 50 of about 3,016 (187)

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

Total Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB

Case Reports in Orthopedics, 2021
Introduction. Morquio syndrome or mucopolysaccharidosis (MPS) type IV is a rare autosomal recessive lysosomal storage disease, characterized by abnormal metabolism of glycosaminoglycans associated with specific skeletal deformities, also known as ...
Yannick N. T. van den Eeden, Niklas Unter Ecker, Holger Kleinertz, Thorsten Gehrke, Tobias M. Ballhause   +4 more
doaj   +1 more source

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

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

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

Adult Morquio syndrome requiring occipito-thoracic fusion

Journal of Orthopaedic Surgery, 2020
Morquio syndrome is a relatively rare entity that is often associated with atlantoaxial instability from early childhood due to odontoid dysplasia based on a mucopolysaccharoidal disorder.
Ryosuke Okumura, Keiji Hasegawa, Shintarou Tsuge, Katsunori Fukutake, Kazumasa Nakamura, Hiroshi Takahashi, Akihito Wada   +6 more
doaj   +1 more source

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

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome [PDF]

, 2016
Long-term efficacy and safety of elosulfase alfa enzyme replacement therapy were evaluated in Morquio A patients over 96weeks (reaching 120weeks in total from pre-treatment baseline) in an open-label, multi-center, phase III extension study.
AlSayed, MD, Berger, KI, Burton, BK, Giugliani, R, Guelbert, N, Harmatz, PR, Hendriksz, CJ, Hughes, DA, Jurecki, E, Matousek, R, Mitchell, JJ, Parini, R, Raiman, J, Shaywitz, AJ, Slasor, P, Solano Villarreal, ML, Stewart, F   +16 more
core   +1 more source

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   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source