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6 results
  1. Mucopolysaccharidosis Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1162
    ... D'Aco et al 2012 ]. Severe MPS I (Hurler Syndrome) Severe MPS I is characterized by a chronic ... severe intellectual disability and hydrocephalus. Attenuated MPS I (Hurler-Scheie Syndrome / Scheie Syndrome) If development is normal at age ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I- ... related-gene></related-gene-list><synonym-list ><synonym >Hurler syndrome</synonym><synonym >Hurler-Scheie syndrome</synonym><synonym >IDUA ...
  3. Refsum Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1353
    ... to that for lysosomal storage diseases (e.g., Hurler syndrome [see MPS I ], Fabry disease , and Gaucher disease ) ...
  4. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... 1. [ PubMed : 10934114 ] 709. Thomas S, Tandon S. Hurler syndrome: a case report. J Clin Pediatr Dent. 2000 ... J, et al. Folate intake and the primary prevention of non-neural birth defects. Aust N Z ...
  5. Gaucher Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1269
    ... associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Curr Opin Rheumatol. 2005; 17 : ...
  6. Alpha-Mannosidosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1396
    ... learning Planning housing for possible future wheelchair use Prevention of Primary Manifestations Most affected individuals are clinically ... of severe irreversible pathology [ Meikle et al 2006 ]. Prevention of Secondary Complications Because of immunodeficiency, affected individuals ...