Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses

Author:

Rigoldi Miriam,Verrecchia Elena,Manna Raffaele,Mascia Maria Teresa

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Reference49 articles.

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, et al., editors. The metabolic and molecular bases of inherited disease. New York: McGraw Hill; 2001. p. 3421–52.

2. Vijay S, Wraith JE. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr. 2005;94:872–7.

3. Clarke LA, Hollak CEM. The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. Best Practice Res Clin Endocrinol Metab. 2015;29:219–35.

4. Cimaz R, Vijay S, Haase C, Coppa GV, Bruni S, Wraith E, et al. Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. Clin Exp Rheumatol. 2006;24(2):196–202.

5. Mascia MT. Proposta della compilazione di un’anamnesi semistrutturata da parte del paziente come screening nelle popolazioni a rischio di mucopolisaccaridosi (MPS). Medici Oggi (ISSN 1721–0208. 2015;19(1):1–4.

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