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54 results
  1. ... of Genes and Diseases from OMIM HURLER SYNDROME HURLER-SCHEIE SYNDROME SCHEIE SYNDROME Scientific Articles on PubMed PubMed References Campos D, Monaga M. Mucopolysaccharidosis type I: current ...
  2. ... National Genetic Database .) 5. Friederich et al [2018] References Bach G, Moskowitz SM, Tieu PT, Matynia A, Neufeld EF. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: ...
  3. ... Contents Search term < Prev Next > Appendix F Appendix References 1. Clarke LA, Wraith JE, Beck M, et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. 2009 Jan; 123 (1):229–40. [ PubMed : ...
  4. ... IDUA Data are compiled from the following standard references: gene from HGNC ; ... 607015 HURLER-SCHEIE SYNDROME 607016 SCHEIE SYNDROME Gene ...
  5. ... Mucopolysaccharidosis type I</title><other_names ><other_name >Hurler syndrome</other_name><other_name >Hurler-Scheie syndrome</other_name><other_name >IDUA deficiency</other_name>< ...
  6. ... ML II Severe mucopolysaccharidosis type I (MPS I; Hurler syndrome) IDUA Coarse features Slowed statural growth Clawed hands ... XL = X-linked 1. Formerly referred to as Hurler-Scheie syndrome or Scheie syndrome 2. Also referred to as ...
  7. ... features of the mucopolysaccharidoses. Specifically, mucopolysaccharidosis type I (Hurler syndrome), mucopolysaccharidosis type II (Hunter syndrome), mucopolysaccharidosis type IVA ( ...
  8. ... to that for lysosomal storage diseases (e.g., Hurler syndrome [see MPS I ], Fabry disease , and Gaucher disease ) ... al 2002 , Van den Brink et al 2003b ]. References Literature Cited Bamiou DE, Spraggs PR, Gibberd FB, ...
  9. ... von Gierke) (American Liver Foundation) Also in Spanish Hurler Syndrome (National Marrow Donor Program) MPS Diseases (National MPS ... gov: Mucopolysaccharidoses (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  10. ... 1. [ PubMed : 10934114 ] 709. Thomas S, Tandon S. Hurler syndrome: a case report. J Clin Pediatr Dent. 2000 ...
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