Syndrome de Hurler : diagnostic et prise en charge précoces
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference21 articles.
1. Cumulative incidence rates of the mucopolysaccharidoses in Germany;Baehner;J Inherit Metab Dis,2005
2. Incidence and prevalence of MPS I in the Irish Republic;Murphy;Arch Dis Child,2009
3. 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;Bertola;Hum Mutat,2011
4. Rheumatological manifestations are key in the early diagnosis of mucopolysaccharidosis type I;Manger;Eur Muscoskeletal Rev,2008
5. Guide affection longue durée. Mucopolysaccharidose de type I;HAS,2007
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1. A case study of three patients with mucopolysaccharidoses in Hue Central Hospital;SAGE Open Medical Case Reports;2020-01
2. Pathology of the Child’s Cervical Spine and Its Clinical Implications;The Management of Disorders of the Child’s Cervical Spine;2018
3. Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree;Molecular Genetics and Metabolism Reports;2017-09
4. 30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case;Molecular Genetics and Metabolism Reports;2016-12
5. Otolaryngological findings in mucopolysaccharidosis;Journal of Medical Updates;2014-12-01
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