İLGİLİ REFERANSLAR

  1. Harmatz P., Mengel K.E., Giugliani R., et al. The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 109;1:54–61.
  2. Solanki G.A., Lo W.B., Hendriksz C.J. MRI morphometric characterisation of paediatric cervical spine and spinal cord in children with MPS IVA (Morquio–Brailsford syndrome). J Inherit Metab Dis. (2013) 36;2:329–37.
  3. Montano A.M., Tomatsu S., Gottesman G.S., Smith M., Orii T. International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis (2007) 30:165–174.
  4. White K.K., Harmatz P. Orthopedic management of mucopolysaccharide disease. J Pediatr Rehabil Med. (2010) 3;1:47–56.
  5. Walker R., Belani K.G., Braunlin E.A., et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013 36;2:211.9.
  6. Swiedler S.J., Beck M., Bajbouf M., et al. Threshold Efect of Urinary Glycosaminoglycans and the Walk Test as Indicators of Disease Progression in a Survey of Subjects With Mucopolysaccharidosis VI (Marateaux–Lamy Syndrome). American Journal of Medical Genetics (2005) 134A:144–150.
  7. Arn P., Whitley C., Wraith J.E., Warner Webb H., Underhill L., Rangachari L., Cox G.F. High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. Journal of Pediatric Surgery (2012) 47:477–484.
  8. Mendelsohn N.J., Wood T., Olson R.A., Temee R., Hale S. Zhang H., Read L. White K.K. Spondyloepiphyseal Dysplasias and Bilateral Legg–Calvé–Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses. JIMD Rep. (2013) 11:125–32.
  9. Pelley C.J., Kwo J., Hess D.R. Tracheomalacia in an adult with respiratory failure and Morquio syndrome. Respir Care (2007) 52:278–282.
  10. Walker P.P., Rose E., Williams J.G. Upper airways abnormalities and tracheal problems in Morquio’s disease. Thorax (2003) 58:458–459.
  11. Braunlin E.A., Harmartz P.R., Scarpa M., et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011 34;6:1183–97.
  12. Neufeld E.F., Muenzer J.: The Mucopolysaccharidoses. In The Metabolic and Molecular Bases of Inherited Disease Edited by: Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw–Hill; (2001) 3421–3452.
  13. Northover H., Cowie R.A., Wraith J.E. Mucopolysaccharidosis type IVA (Morquio syndrome): A clinical review. J Inherit Metab Dis. (1996) 19:357–365.
  14. Berger K.I., Fagondes S.C, Giugliani R., et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. (2013) 36;2:201–10.
  15. Valayannopoulos V., Nicely H., Harmatz P., Turbeville S. Mucopolysaccharidosis VI. Orphanet Journal of Rare Diseases. (2010) 5:5.
  16. Hendriksz C.J., Al–Jawad M., Berger K.I., et al. Clinical overview and treatment options for non–skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis. (2013) 36;2:309–22.
SİTE ÜZERİNDEKİ İÇERİK YALNIZCA BİLGİ VE EĞİTİM AMAÇLI OLUP BİR SAĞLIK UZMANININ HASTALARA TEŞHİS KOYMA VE TEDAVİ UYGULAMASINA İLİŞKİN PROFESYONEL KARARININ YERİNE GEÇMEZ. BIOMARIN TIBBİ TAVSİYELERDE BULUNMAZ VE TIBBİ HİZMETLER VEYA TANI HİZMETLERİ SAĞLAMAZ. DOĞRUDAN VEYA SİTE ÜZERİNDEN EDİNDİĞİNİZ İÇERİĞİ TEMEL ALMA RİSKİ YALNIZCA SİZE AİTTİR.
BioMarin International Ltd. tarafından desteklenmiş ve finanse edilmiştir
Sadece Sağlık Mesleği Mensupları içindir
© BioMarin International Ltd. Tüm hakları saklıdır
EU-MPS-00201 Haziran 2022.

Çerez Tercihleri