Results 41 to 50 of about 4,093 (193)

Morquio’s Syndrome: A Case Report of Two Siblings [PDF]

Case Reports in Dentistry, 2017
Morquio syndrome or MPS IVA is a rare type of lysosomal storage disease associated with highly specific dental abnormalities. We present two siblings with enamel hypoplasia and skeletal abnormalities. A diagnosis of mucopolysaccharidosis type IVA was reached based on the clinical, radiographic, and dental findings of the patients.
Sathish Muthukumar Ramalingam, Daya Srinivasan, Sandhya ArunKumar, Joe Louis ChiriyanKandath, Sriram Kaliamoorthy   +4 more
openaire   +3 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

Mortality in Patients with Morquio Syndrome A [PDF]

, 2014
Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, life-limiting lysosomal storage disease characterized by deficient activity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age.To better understand the natural progression of the ...
Christine, Lavery, Chris, Hendriksz
openaire   +2 more sources

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA [PDF]

Korean Journal of Pediatrics, 2012
PurposeMucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin   +7 more
doaj   +1 more source

Activity of daily living for Morquio A syndrome [PDF]

Molecular Genetics and Metabolism, 2016
The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index.
Eriko, Yasuda, Yasuyuki, Suzuki, Tsutomu, Shimada, Kazuki, Sawamoto, William G, Mackenzie, Mary C, Theroux, Christian, Pizarro, Li, Xie, Freeman, Miller, Tariq, Rahman, Heidi H, Kecskemethy, Kyoko, Nagao, Thierry, Morlet, Thomas H, Shaffer, Yasutsugu, Chinen, Hiromasa, Yabe, Akemi, Tanaka, Haruo, Shintaku, Kenji E, Orii, Koji O, Orii, Robert W, Mason, Adriana M, Montaño, Toshiyuki, Fukao, Tadao, Orii, Shunji, Tomatsu   +24 more
openaire   +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   +1 more source

Widespread Vasculopathy in a Patient with Morquio A Syndrome [PDF]

Texas Heart Institute Journal, 2017
Morquio A syndrome (mucopolysaccharidosis IV type A), an autosomal recessive lysosomal storage disorder caused by a defective N-acetylgalactosamine 6-sulfatase gene, leads to lysosomal accumulation of keratan sulfate and chondroitin 6-sulfate. This accumulation affects multiple systems and causes notable cardiovascular manifestations, such as ...
Adam W, Powell, Michael D, Taylor, T Andrew, Burrow, Robert J, Hopkin, Carlos E, Prada, John L, Jefferies   +5 more
openaire   +2 more sources

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

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

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