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61 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. ... 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 : ...
  3. ... IDUA Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; ... SYNDROME 607016 SCHEIE SYNDROME Molecular ...
  4. ... Druze population originally from central Lebanon and Jordan ... EF. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: ...
  5. ... JE. The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr. 1995 Mar; 84 (3):337–9. ... infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant. 2002 Aug; 30 ( ...
  6. ... as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences ... posted live 27 August 2018 (ran) Original submission References Literature Cited Adang LA, Sherbini O, Ball L, ...
  7. ... 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>< ...
  8. ... 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 ...
  9. ... the reports of bone marrow transplantation (BMT) in Hurler syndrome (MPS I). Overall, the efficacy of BMT for ... posted live 8 June 2007 (rm) Original submission References Literature Cited Annibali R, Caponi L, Morganti A, ...
  10. ... 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 ...
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