Mukopolisakkaridozis sendromları

Kalıtsal

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

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

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  • 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