Results 21 to 30 of about 21,517,347 (239)

Heliox in the management of respiratory failure in a Morquio A syndrome patient with trachea narrowing [PDF]

Respiratory Medicine Case Reports
Morquio A Syndrome is a mucopolysaccharide deposition disease where patients can develop respiratory failure due to airway narrowing by polysaccharide deposition, anatomical distortion and compression of the airway.
Minghan Shi, Birubi Biman
doaj   +2 more sources

Síndrome de Morquio, una afección infrecuente

Revista Eugenio Espejo, 2020
Introducción: el síndrome de Morquio es una rara enfermedad hereditaria autosómica recesiva, caracterizada por la presencia de un trastorno del metabolismo de los glúcidos, generando disminución de la calidad de vida.
Deyssy Viviana Crespo Vallejo, Dra., Valeria Alexandra Rodríguez Pacheco, Dra., Mayra Alejandra Ruiz Ayerve, Dra.   +2 more
doaj   +3 more sources

A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance [PDF]

Case Reports in Medicine, 2012
We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency of β-galactosidase.
Annalisa Di Cesare, Alessandra Di Cagno, Stefano Moffa, Paolucci Teresa, Innocenzi Luca, Arrigo Giombini   +5 more
doaj   +2 more sources

Morquio syndrome: A radiological diagnosis

CHRISMED Journal of Health and Research, 2015
Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (MPS).
Sadhanandham Shrinuvasan, Ranganathan Chidambaram   +1 more
doaj   +2 more sources

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

BMC Medical Genetics, 2018
Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene.
Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone   +12 more
doaj   +2 more sources

Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center

Molecular Genetics and Metabolism Reports, 2020
Introduction: Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the ...
Andrés Felipe Erazo-Narváez, Juan Manuel Muñoz-Vidal, Guillermo Hernando Rodríguez-Vélez, María Amparo Acosta-Aragón   +3 more
doaj   +2 more sources

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

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

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   +4 more sources

Current therapies for Morquio A syndrome and their clinical outcomes

Expert Opinion on Orphan Drugs, 2016
Introduction: Morquio A syndrome is characterized by a unique skeletal dysplasia, leading to short neck and trunk, pectus carinatum, laxity of joints, kyphoscoliosis, and tracheal obstruction. Cervical spinal cord compression/inability, a restrictive and
Kazuki Sawamoto, Yasuyuki Suzuki, William G Mackenzie   +2 more
exaly   +2 more sources

I-gel assisted fiberoptic intubation in a child with Morquio′s syndrome

Saudi Journal of Anaesthesia, 2015
Morquio′s syndrome, also known as mucopolysaccharidosis type IV is an autosomal recessive disorder, caused by deficiency of n-acetylgalactosamine-6-sulphate.
Sangeeta Dhanger, Sethuramachandran Adinarayanan, Stalin Vinayagam, Mohanasundaram Praveen Kumar   +3 more
doaj   +2 more sources