Results 31 to 40 of about 5,240 (183)

EVALUATION OF HEMATOLOGIC FINDINGS IN MUCOPOLYSACCHARIDOSIS CASES

, 2020
Introduction: Mucopolysaccharidosis (MPS) are lysosomal storage diseases characterized by chronic, progressive and multiple system involvement due to impaired glycosaminoglycans destruction. There are 7 types of MPS as type I, II, III, IV, VI, VII and IX.
Karaca, Meryem, Cakar, Nafiye Emel
core   +1 more source

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   +1 more source

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis [PDF]

, 2017
Aim: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of spesific lysosomal enzymes required to break down glycosaminoglycans.
Engin Köse, Kose, Engin, Pelin Teke Kısa, Nur Arslan, Merve Ateşoğlu, Arslan, Nur, Kisa, Pelin, Atesoglu, Merve   +7 more
core   +1 more source

Analysis of the upper airway by the acoustic reflection method in children with mucopolysaccharidosis: Acoustic reflection in mucopolysaccharidosis

, 2011
International audienceBackground Upper airway obstruction is common in children with mucopolysaccharidosis. The acoustic reflection method is a noninvasive technique that can analyse the calibre of the upper airways.
Louis, Bruno, Vialle, Raphael, Bénédicte Heron, Bruno Louis, Leboulanger, Nicolas, Fauroux, Brigitte, Heron, Benedicte, Nicolas Leboulanger, Brigitte Fauroux, Raphaël Vialle   +9 more
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Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two‐dimensional speckle‐tracking method

Jornal de Pediatria (Versão em Português), 2019
Objective: Mucopolysaccharidosis is a rare genetic disease characterized by the intralysosomal deposition of glycosaminoglycans. Cardiovascular impairment is a common feature.
Mirela F.A. Andrade, Isabel Cristina B. Guimarães, Angelina X. Acosta, Emília Katiane E.A. Leão, Moisés I.G. Moreira, Carlos Maurício C. Mendes   +5 more
doaj   +3 more sources

Cranio-cervical decompression associated with non-instrumented occipito-C2 fusion in children with mucopolysaccharidoses: Report of twenty-one cases

North American Spine Society Journal, 2022
Background: Mucopolysaccharidosis (MPS) is a multisystemic storage disorder of glycosaminoglycan deposits. Infiltration of the dura mater and supporting ligaments caused spinal cord compression and consecutive myelopathy, especially at the cranio ...
Mohamed Zairi, Ahmed Msakni, Ahmed Amin Mohseni, Nesrine Nessib, Sofiene Bouali, Rim Boussetta, Mohamed Nabil Nessib   +6 more
doaj   +1 more source

Treating a teenager with Morquio A syndrome (mucopolysaccharidosis IV A) with Vimizim

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2021
The article describes a clinical case of enzyme replacement therapy (ERT) with elosulfase alfa for a teenager with mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome). Treatment was started quite late, at the age of 12, against the background of a severe course of Morquio A syndrome. Nevertheless, the child showedan improvement in enduranceand
E. E. Gurinova, A. L. Sukhomyasova, A. N. Semyachkina, P. V. Ochirova   +3 more
openaire   +2 more sources

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition

Molecular Genetics and Metabolism Reports, 2018
Morquio B disease (MBD) or Mucopolysaccharidosis type IV B (MPS IV B) is caused by particular GLB1 mutations specifically affecting the affinity of beta-galactosidase to keratan sulphate, resulting in dysostosis multiplex resembling Morquio A (MPS IV A ...
Maria Bleier, Nataliya Yuskiv, Tina Priest, Marioara Angela Moisa Popurs, Sylvia Stockler-Ipsiroglu   +4 more
doaj   +1 more source

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   +1 more source

Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score

, 2021
(1) Background: Mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders caused by the absence of enzymes required for degradation of glycosaminoglycans (GAGs).
Chaitanya Gadepalli, Karolina M. Stepien, Reena Sharma, Ana Jovanovic, Andrew Bentley, Govind Tol   +5 more
core   +1 more source