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Elucidating the functional impact of G137V and G144R variants in Maroteaux Lamy's Syndrome by Molecular Dynamics Simulation.
Mol Divers
August 2024
Department of Biotechnology, Faculty of Biomedical Sciences & Technology, Sri Ramachandra Institute of Higher Education and Research (DU), Porur, Chennai, Tamil Nadu, 600116, India.
Mucopolysaccharidoses VI (Maroteaux Lamy syndrome) is a metabolic disorder due to the loss of enzyme activity of N-acetyl galactosamine-4-sulphatase arising from mutations in the ARSB gene. The mutated ARSB is the origin for the accumulation of GAGs within the lysosome leading to severe growth deformities, causing lysosomal storage disease. The main focus of this study is to identify the deleterious variants by applying bioinformatics tools to predict the conservation, pathogenicity, stability, and effect of the ARSB variants.
View Article and Find Full Text PDFTracheobronchial stents in mucopolysaccharidosis.
Int J Pediatr Otorhinolaryngol
April 2016
Division of Respiratory Medicine and Thoracic Oncology, Ludwig-Maximilians University, Munich, Germany.
Introduction: The mucopolysaccharidoses are a group of hereditary disorders pathologically characterized by tissue accumulation of glycosaminoglycans due to deficient lysosomal metabolism which often leads to progressive airway stenosis and respiratory insufficiency. Relentless and treatment-refractory narrowing of the lower airways with ensuing severe limitation of quality of life is a challenging problem in mucopolysaccharidoses.
Case Reports: We report 2 cases of MPS (Hunter's and Maroteaux-Lamy's syndrome resp.
[Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis].
Lakartidningen
April 2002
Barnens sjukhus, Huddinge Universitetssjukhus.
The mucopolysaccharide (MPS) diseases are a group of inherited, progressive, lysosomal disorders due to deficiencies in various enzymes involved in the lysosomal degradation of cellular glycosaminoglycans (GAG). The six MPS-diseases share clinical features, but each has unique characteristics as well. There is a wide variation in clinical symptomatology even within the same enzyme deficiency.
View Article and Find Full Text PDF[Mucopolysaccharidosis. A case report of Morquio's type-A disease (MPS IV-A)].
Minerva Stomatol
November 1992
Facoltà di Medicina e Chirurgia, Istituto di Odonto-Gnato-Stomatologia, Università degli Studi di Firenze.
The mucopolysaccharidosis represent a broad spectrum of disorders due to the deficiency of one of a group of enzymes which degrade three classes of mucopolysaccharides: heparan sulfate, dermatan-sulfate and keratan sulfate. The general phenotype includes coarse facies, corneal clouding, hepatosplenomegaly, joint stiffness, hernias, dysostosis multiplex, mucopolysaccharides excretion in the urine and metachromatic staining in peripheral leukocytes and bone marrow. Various components of the MPS phenotype are also found in the mucolipidoses, glycoprotein storage diseases.
View Article and Find Full Text PDF[Maroteaux-Lamy's pycnodysostosis associated to external genital malformations].
Arq Neuropsiquiatr
December 1976
The case of a seven-years-old girl with features of Maroteaux-Lamy's pycnodysostosis associated with external genital envolvement is reported. Considering the apparent and gradual increase of the clinical traits in this condition, this case may represent some contribution to its nosography. Additionally dermatoglyps technique and analysis were done which peculiar results are discussed.
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