Results 91 to 100 of about 1,770 (187)

Manejo exitoso de vía aérea con dispositivo King Visión en un niño con síndrome de Morquio: reporte de caso.

, 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 ...
Zamudio, Mario Andrés, Guerra, Lina Maritza, Salazar, Jonny Arbey   +2 more
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Type 2 Respiratory Insufficiency, Pulmonary Hypertension, and Obstructive Sleep Apnea Syndrome that Developed in Morquio Syndrome

, 2014
Mucopolysaccharidosis type IVA (Morquio syndrome) is a multisystemic autosomal recessive transitive disease induced by an N- acetylgalactosamine 6 sulfatase (GALNS) gene defect, progressing with lysosomal stock failure.
Çimen, Dilay, Mehmet Ekici, Dilay Cimen, Ekici, Aydanur, Aydanur Ekici, Gülhan, Pınar Yıldız, Pinar Yildiz Gulhan, Ekici, Mehmet   +7 more
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ATLANTO-AXIAL SUBLUXATION IN THE MORQUIO SYNDROME

, 1973
1. The case is described of an eight-year-old girl with the Morquio syndrome (mucopolysaccharidosis type IV) who died from acute tetraplegia, due to atlanto-axial subluxation which occurred during general anaesthesia. 2.
James Craig, Peter Beighton
core   +1 more source

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
Mary C. Theroux, Michael Beck, Renée Shediac, Theroux, Mary C, Lampe, Christian G, William G. Mackenzie, White, Klane K, Christina Lampe, Martin, Kenneth W, Christian J. Hendriksz, Beck, Michael, Harmatz, Paul R, Christian G. Lampe, Lampe, Christina, Mackenzie, William G, Hendriksz, Christian J, Paul R. Harmatz, Solanki, Guirish A, Klane K. White, Guirish A. Solanki, Shediac, Renée, Kenneth W. Martin   +21 more
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Additional file 1 of Understanding bias when estimating life expectancy from age at death: a simulation approach applied to Morquio syndrome A

, 2022
Additional file 1. Supplementary information to “Understanding bias when estimating life expectancy from age at death: A simulation approach applied to Morquio Syndrome A”
Jaeil Ahn (3426404), Xue Yin (5548802), Simina M. Boca (11952291)   +2 more
core   +1 more source

Morquio’s Syndrome: A Case Report of Two Siblings

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.
Sathish Muthukumar Ramalingam, Daya Srinivasan, Sandhya ArunKumar, Joe Louis ChiriyanKandath, Sriram Kaliamoorthy   +4 more
doaj   +1 more source

Multidisciplinary treatment approach of Morquio Syndrome (mucopolysaccharidosis type IVA)

, 2006
Morquio syndrome (mucopolysaccharidosis type IVA) is an autosomal recessive disorder caused by the accumulation of mucopolysaccharides in lysosomes because of the deficiency of N-acetylgalactosamine-6-sulphate sulphatase.
Ertan Erdinç A.M., Cal E., Önçag G.
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Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database

, 2014
Morquio A syndrome (mucopolysaccharidosis IVA) is an autosomal recessive disorder that results from deficient activity of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to alterations in the GALNS gene, which causes major skeletal and ...
Mealiffe, M, Davidson, Kathryn, Miller, Nicole, Oron, Tal Ronnen, Morrone, Amelia, Zawadzki, Karl A., Du, C, Caciotti, Anna, Caciotti, A, Du, Chaoyi, Oron, T R, Ryles, A, Zawadzki, Karl A, Harmatz, Paul, Morrone, A, Zawadzki, K A, Atwood, Robert, Mooney, Sean, Ryles, April, Harmatz, P, Davidson, K, Mooney, S, Mealiffe, Matthew, Miller, N, Francis-Lyon, Patricia, Atwood, R   +25 more
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Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome

, 2022
Mucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women.
Achicanoy Puchana, Diana Fernanda, Osorio Segura, Lady Johana, Cadena Arteaga, Jorge Alejandro, Achicanoy Puchana, Denny Marcela, Juez Neira, William Fernando, Vasquez Correa, Karen Julieth, Medina-Bravo, Paola Andrea, Vanegas Bastidas, Cristian Ricardo, Montoya Ríos, Diana Carolina, Suárez Cuéllar, Laura Catalina, Lasso Andrade, Fabricio Andres, Caicedo Morillo, Gina Natalia   +11 more
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Morquio Syndrome: A Case Report.

Cureus, 2018
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disease. The main features include skeletal defects and possible cardiopulmonary complications. The cost of diagnosing and treating this condition is high, and treatment is not easily available everywhere. We present a case of Morquio
Ramphul, Kamleshun, Mejias, Stephanie G, Ramphul-Sicharam, Yogeshwaree   +2 more
openaire   +2 more sources