Results 181 to 190 of about 335,217 (205)

A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome

American Journal of Medical Genetics Part A, 2018
Respiratory problems are common in Morquio‐A syndrome (MPS IVA) but objective data on sleep‐disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA.
Giulia Facchina, Alessandro Amaddeo, Geneviève Baujat, Sylvain Breton, Caroline Michot, Briac Thierry, Syril James, Timothé de Saint Denis, Michel Zerah, Sonia Khirani, Valerie Cormier‐Daire, Brigitte Fauroux   +11 more
openaire   +3 more sources

Quantification of keratan sulfate in biofluids by validated HPCE-LIF: application to Morquio syndrome.

Bioanalysis
BACKGROUND Keratan sulfate (KS) is altered in several pathological conditions. We report the capillary electrophoresis-laser induced fluorescence separation and validation of KS-derived disaccharides Galβ(1-4)GlcNAc(6S) and Gal(6S)β(1-4)GlcNAc(6S) in ...
Fabio Galeotti, L. Zampini, F. Maccari, Chiara Monachesi, L. Padella, L. Santoro, Orazio Gabrielli, Nicola Volpi   +7 more
semanticscholar   +1 more source

AYURVEDIC MANAGEMENT OF MORQUIO SYNDROME IN A PEDIATRIC PA-TIENT – A CASE STUDY

International Ayurvedic Medical Journal
Mucopolysaccharidosis type IV, also known as Morquio syndrome, a rare hereditary disease of autosomal recessive storage that is a progressive disease that affects the skeleton. The affected person develops various skeletal abnormalities, including height,
Amisha Bavarva
semanticscholar   +1 more source

Morgagni hernia in a patient with Morquio syndrome

Hernia, 2000
Morgagni hernia is a type of congenital diaphragmatic hernia which constitutes 2–6% of congenital diaphragmatic hernia cases. Morquio syndrome, a type of lysosomal hydrolase deficiency, results in keratan sulphate accumulation and skeletal dystrophy. Other anomalies such as cardiac anomalies and trisomy 21 may accompany the Morquio syndrome; however ...
T. Z. Nursal, M. Atli, V. Kaynaroglu
openaire   +1 more source

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome

Molecular Genetics and Metabolism, 2016
Morquio A Syndrome (mucopolysaccharidosis IVA [MPS IVA]) is an inherited, autosomal recessive lysosomal storage disorder that occurs in ~1 in 200,000 to 300,000 live births.(1) (Online access http://www.elseviercme.com/559) Individuals with Morquio A Syndrome have mutations in the gene that encodes N-acetylgalactosamine-6-sulfate sulfatase (GALNS), an ...
Lorne A, Clarke, Paul, Harmatz, Edward W, Fong   +2 more
openaire   +2 more sources

A new lysosomal storage disorder resembling Morquio syndrome in sibs

European Journal of Medical Genetics, 2012
We report two male sibs, born from unrelated French Caribbean parents, presenting with an unclassifiable storage disorder. Pregnancy and delivery were uneventful. Stunted growth was noted during the first year of life. Both children have short stature (below - 4SD) with short trunk, barrel chest, micromelia with rhizomelic shortening, severe ...
Perrin, Laurence, Fenneteau, Odile, Ilharreborde, Brice, Capri, Yline, Gérard, Marion, Quoc, Emmanuel Bui, Passemard, Sandrine, Ghoumid, Jamal, Caillaud, Catherine, Froissart, Roseline, Tabet, Anne-Claude, Lebon, Sophie, El Ghouzzi, Vincent, Mazda, Keyvan, Verloes, Alain   +14 more
openaire   +4 more sources

Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred

American Journal of Medical Genetics, 1985
AbstractA patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding coefficient for the proband. The proband's sibship is segregating two autosomal recessive disorders, ie, MPS IVA and infantile hypophosphatasia.
R. B. Lowry, F. F. Snyder, R. L. Wesenberg, G. A. Machin, D. A. Applegarth, K. Morgan, R. J. Carter, J. R. Toone, T. M. Holmes, R. D. Dewar, John M. Opitz, James F. Reynolds   +11 more
openaire   +2 more sources

Total knee replacements in a patient with the Morquio syndrome

The Journal of Bone and Joint Surgery. British volume, 2008
The Morquio syndrome is a rare disorder which presents with a number of musculoskeletal problems. The literature describing total knee replacement in these patients is sparse. We describe the management of a patient with bilateral instability and pain in the knees using bilateral constrained knee replacements, and followed up for five years with pre ...
M, Atinga, A J, Hamer
openaire   +2 more sources

1209 A Case of Morquio Syndrome Presenting as Respiratory Failure Due to Severe OSA and Successful Long-term Treatment

Sleep
Morquio Syndrome is a lysosomal storage disease (mucopolysaccharidosis type 4) characterized by the accumulation of glycosaminoglycans (GAG) and causes craniofacial, skeletal, and soft-tissue abnormalities.
V. Vyata, Pushkar Deshpande, Vineeta Guntupalli, Montserrat Diaz-Abad, Danielle Glick, Anayansi Lasso-Pirot   +5 more
semanticscholar   +1 more source

Endodontic management of taurodontism in a patient with Morquio syndrome: Case report of a 16-year-old girl.

Special Care in Dentistry: managing special patients, settings, and situations
BACKGROUND AND AIM Mucopolysaccharidosis (MPS) type IV, referred to as Morquio A syndrome (MAS), is a rare genetic disorder characterized by an insufficient level in the storage of glycosaminoglycans within lysosomes.
M. Mirza
semanticscholar   +1 more source