- ... 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 ...
- ... 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: ...
- ... 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 : ...
- ... IDUA Data are compiled from the following standard references: gene from HGNC ; ... 607015 HURLER-SCHEIE SYNDROME 607016 SCHEIE SYNDROME Gene ...
- ... 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>< ...
- ... 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 ...
- ... features of the mucopolysaccharidoses. Specifically, mucopolysaccharidosis type I (Hurler syndrome), mucopolysaccharidosis type II (Hunter syndrome), mucopolysaccharidosis type IVA ( ...
- ... 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, ...
- ... 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 ...
- ... 1. [ PubMed : 10934114 ] 709. Thomas S, Tandon S. Hurler syndrome: a case report. J Clin Pediatr Dent. 2000 ...
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