Results 21 to 30 of about 335,217 (205)

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

Journal of Inherited Metabolic Disease, 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
A Goel, A McDonald, AA Madawi, AL Brooks, AM McLaughlin, AM Montano, AO Ransford, Christian G. Lampe, Christian J. Hendriksz, Christina Lampe, CO Oluigbo, D Shukla, DC Holte, DD Horovitz, DG Hughes, E Castel, ES Lustrin, F Sala, G Solanki, GA Solanki, GA Solanki, GA Solanki, GA Solanki, Guirish A. Solanki, H Elgafy, H Northover, HR Harnsberger, J Ashraf, J Harms, J Nelson, J Nelson, JE Wraith, JF Brailsford, JJ McGill, JK Houten, JM Stevens, JS Torg, JT Kessler, KA Morgan, Kenneth W. Martin, KG Belani, KK White, Klane K. White, L Morquio, M Furujo, Mary C. Theroux, MC Ain, MC Theroux, MD Helgeson, ME Blaw, Michael Beck, MJ Krammer, MM Stecker, O Svensson, P Beighton, Paul R. Harmatz, R Ahmed, R Boor, R Claybrooks, R Lachman, R Lachman, Renée Shediac, RJ Bransford, RW Haid Jr, RW Walker, S Dalvie, S Tomatsu, S Tomatsu, S Ulkatan, SD Boden, SH Lee, SJ Lipson, SY Shinhar, T Gunnarsson, T Henriques, W Müller-Forell, WE Gallie, WG Mackenzie, William G. Mackenzie   +78 more
core   +6 more sources

Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review. [PDF]

Cureus
Mucopolysaccharidosis (MPS) is a group of lysosomal storage disorders characterized by defective degradation of glycosaminoglycans, resulting in progressive multisystem involvement.
Rakshit P, Sadayandi Ramesh A, Gopikrishnan R, Mani MK, Sathia Prabhu A.   +4 more
europepmc   +2 more sources

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

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   +4 more sources

Anaesthetic implications in a patient with Morquio A syndrome [PDF]

Journal of Neuroanaesthesiology and Critical Care, 2015
In patients with Morquio A syndrome, almost all the systems of body are affected and this has a bearing on their anaesthetic management. Herein, we describe the management of child with Morquio A syndrome with atlanto-axial dislocation who underwent ...
Charu Mahajan, K. N. Adarsha, Bhagya R. Jena, Devendra Gupta, Shashi Srivastava   +4 more
doaj   +2 more sources

Simultaneous bilateral total hip arthroplasty in Morquio syndrome. [PDF]

Arthroplast Today, 2017
A 16-year-old girl who had Morquio syndrome presented with severe bilateral hip pain and limited mobility because of bilateral hip osteoarthritis and fixed flexion deformities. She was wheelchair bound for the previous 6 months.
Ilyas I, Kashif S, Rabbani S, Alrumaih HA.   +3 more
europepmc   +2 more sources

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

Respir Med Case Rep
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.
Shi M, Biman B.
europepmc   +2 more sources

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   +2 more sources

Morquio’s Syndrome: A Case Report of Two Siblings [PDF]

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   +4 more sources

Mucopolysaccharidoses type IV A (Morquio syndrome): A case series of three siblings

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2012
Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (mucopolysaccharides).
P Rekka, P V Rathna, S Jagadeesh, S Seshadri   +3 more
doaj   +2 more sources

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome [PDF]

Mol Genet Metab Rep
Background: Morquio A syndrome is associated with progressive loss of ambulatory capacity. The impact of elosulfase alfa enzyme replacement therapy (ERT), the approved treatment for Morquio A, remains understudied in non-ambulatory patients.
de Souza C, Burton B, Campeau P, Giugliani R, Guffon N, Lampe C, Muschol N, Sivri S, Solano M, Stepien K.   +9 more
europepmc   +2 more sources