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Mukopolisakkaridozis sendromları

Kalıtsal

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  • Gardner DG. The Oral Manifestations of Hurler's Syndrome. Oral Surgery, Oral Medicine, Oral Pathology, 32 (1), 46-57, 1971

  • Feder HM Jr. Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome. Current Opinion in Pediatrics, 12(3):253-256, 2000

  • Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck. 4th ed., Oxford University Press, New York, 2001

  • Azevedo AC, Schwartz IV, Kalakun L, et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clinical Genetics, 66(3):208-213, 2004

  • Froissart R, Da Silva IM, Maire I. Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatrica, Suppl.96:71-77, 2007

  • Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics. Annual Review of Genomics and Human Genetics, 9:359-386, 2008

  • Garrido E, Cormand B, Hopwood JJ, et al. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Molecular Genetics & Metabolism, 94(3):305-312, 2008

  • Thomas JA, Beck M, Clarke JTR, Cox GF. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. The Journal of Inherited Metabolic Disease, 33(4): 421-427, 2010

  • Malm G, Månsson JE. Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. Acta Paediatrica, 99(8):1253-1257, 2010

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • Sampaio I, Marques JG. Periodic fever with aphthous stomatitis, pharyngitis and adenitis: report of 21 cases. Acta Médica Portuguesa, 24(1):37-42, 2011

  • D’Aco K, Underhill L, Rangachari L, et al. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. European Journal of Pediatrics, 171(6): 911-919, 2012

  • Kayserili H, Kantaputra PN. Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. American Journal of Medical Genetics, 158A:1798–1800, 2012

  • Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. European Journal of Pediatrics, 171(4): 631-639, 2012

  • Giugliani R, Villarreal MLS, Valdez CAA, et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genetics & Molecular Biology, 37(2): 315-329, 2014

  • Tylki-Szymańska A. Mucopolysaccharidosis type II, Hunter's syndrome. Pediatric Endocrinology Reviews, 12 Suppl 1:107-113, 2014

  • Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Molecular Genetics & Metabolism, 113(1-2):34-41, 2014

  • Vairo F, Federhen A, Baldo G, et al. Diagnostic and treatment strategies in mucopolysaccharidosis VI. The Application of Clinical Genetics, 8: 245–255, 2015

  • Fedele AO. Sanfilippo syndrome: causes, consequences, and treatments. The Application of Clinical Genetics, 8: 269-281, 2015

  • Hendriksz CJ, Berger KI, Giugliani R, et al. International Guidelines for the Management and Treatment of Morquio A Syndrome. American Journal of Medical Genetics A, 167(1): 11-25, 2015

  • Ahmed A, Rudser K, Kunin-Batson A, et al. Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, reliability, and validity. JIMD Reports, 26: 61-68, 2016

 

 

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