Results 31 to 40 of about 1,770 (187)

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis [PDF]

JMIR Research Protocols
BackgroundMucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase ...
Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, Wilmar Saldarriaga, Juan David Gutierrez-Medina, Harry Pachajoa   +5 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   +2 more sources

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   +3 more sources

A Case Report of Cardiac Ascites in Morquio Syndrome Complicated by Pulmonary Hypertension

Annals of Internal Medicine: Clinical Cases
Morquio syndrome, or mucopolysaccharidosis type IV (MPS IV), is a rare lysosomal storage disorder characterized by skeletal dysplasia and dysostosis multiplex.
Gauri Patel, Olakanmi Joseph Deleawe
doaj   +3 more sources

Morquio syndrome. Case report

Revista de la Facultad de Ciencias de la Salud, 2010
We present a case of a Morquio syndrome, it is a disease transmitted by inheritance autosomic recessive, is systemic disease, mainly affects cartilage, clinically there is deficiency of Galactose-6-sulfatase and beta-galactosidase enzymes, clinically is ...
Ivonne Alejandra Meza, Jaime Álvarez-Soler   +1 more
doaj   +3 more sources

Activity of daily living for Morquio A syndrome. [PDF]

Mol Genet Metab, 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.
Yasuda E, Suzuki Y, Shimada T, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Xie L, Miller F, Rahman T, Kecskemethy HH, Nagao K, Morlet T, Shaffer TH, Chinen Y, Yabe H, Tanaka A, Shintaku H, Orii KE, Orii KO, Mason RW, Montaño AM, Fukao T, Orii T, Tomatsu S.   +24 more
europepmc   +4 more sources

Safe intubation in Morquio-Brailsford syndrome: A challenge for the anesthesiologist

Journal of Anaesthesiology Clinical Pharmacology, 2013
Morquio-Brailsford syndrome is a type of mucopolysaccharidoses. It is a rare disease with features of short stature, atlantoaxial instability with risk of cord damage, odontoid hypoplasia, pectus carinatum, spine deformities, hepatomegaly, and ...
Souvik Chaudhuri, Arun Kumar Handigodu Duggappa, Shaji Mathew, Sandeep Venkatesh   +3 more
doaj   +2 more sources

Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome

South African Journal of Radiology, 2012
Mucopolysaccharidosis (MPS) comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism), MPS II (Hunter's syndrome), MPS III ...
umesh chandra parashari, sachin khanduri, samarjit bhadury, sugandha rawat   +3 more
doaj   +3 more sources

Overcoming the barriers to diagnosis of Morquio A syndrome. [PDF]

Orphanet J Rare Dis, 2014
Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a
Bhattacharya K, Balasubramaniam S, Choy YS, Fietz M, Fu A, Jin DK, Kim OH, Kosuga M, Kwun YH, Inwood A, Lin HY, McGill J, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Toh TH, Yang AD, Lin SP.   +20 more
europepmc   +4 more sources

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa [PDF]

Orphanet Journal of Rare Diseases, 2017
Background This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 years of age evaluated in an open-
D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, A. Quartel   +8 more
doaj   +2 more sources