Mucopolysaccharidoses: early diagnostic signs in infants and children
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13052-018-0550-5.pdf
Reference35 articles.
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3. Wraith JE, Jones S. Mucopolysaccharidosis type I. Pediatr Endrocrinol Rev. 2014;12(Suppl 1):102–6.
4. Parini R, Jones SA, Harmatz PR, Giugliani R, Mendelsohn NJ. The natural history of growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). Mol Genet Metab. 2016;117(4):438–46.
5. Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, et al. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat. 2011;32(6):E2189–210.
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