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18 results
  1. Mucopolysaccharidosis Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1162
    ... lysosome, the appropriate intracellular site [ Russell & Clarke ... & Muenzer 2001 ]. The following are important considerations: ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Mucopolysaccharidosis type I</name><ghr-page >https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-i</ghr-page><text-list ><text ><text- ...
  3. Gaucher Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1269
    ... type C , Wolman disease (lysosomal lipase deficiency), the mucopolysaccharidoses (including mucopolysaccharidosis type I and mucopolysaccharidosis type II ), ...
  4. Alpha-Mannosidosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1396
    ... ethnicity, individuals have typical Hurler-like facies (see Mucopolysaccharidosis Type 1 ) or coarse facial features, macrocephaly with ... overlap with other lysosomal storage diseases (e.g., mucopolysaccharidosis type 1 ). However, the distinctive clinical features associated ...
  5. Clinical evidence – search strategies - Challenging Behaviour and Learning Disabilities - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK355386
    ... or cat cry syndrome/ or down syndrome/ or mucopolysaccharidosis/ or phenylketonuria/ or pyruvate dehydrogenase/ or rubinstein syndrome/ ... lesch-nyhan syndrome/ or fragile x syndrome/ or mucopolysaccharidoses/ or exp phenylketonurias/ or exp prader-willi syndrome/ ...
  6. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... January 28, 2005; Last Update: July 30, 2015. Mucopolysaccharidosis Type I Lorne A Clarke. Initial Posting: October 31, 2002; Last Update: February 11, 2016. Mucopolysaccharidosis Type II Maurizio Scarpa. Initial Posting: November 6, ...
  7. Health economic evidence – search strategies - Challenging Behaviour and Learning Disabilities - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK355387
    ... or cat cry syndrome/ or down syndrome/ or mucopolysaccharidosis/ or phenylketonuria/ or pyruvate dehydrogenase/ or rubinstein syndrome/ ... lesch-nyhan syndrome/ or fragile x syndrome/ or mucopolysaccharidoses/ or exp phenylketonurias/ or exp prader-willi syndrome/ ...
  8. Cockayne Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1342
    ... Syndrome Nowaczyk MJM, Wassif CA. GeneReviews®. 1993 Review Mucopolysaccharidosis Type IVA [GeneReviews ® . 1993] Review Mucopolysaccharidosis Type IVA Regier DS, Oetgen M, Tanpaiboon P. ...
  9. Mucolipidosis IV - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1214
    ... I (OMIM 256550 ), mucolipidosis type II , and the mucopolysaccharidoses ( MPS I , MPS II , MPS IVA , MPS IVB ). See Mucopolysaccharidoses: OMIM Phenotypic Series to view genes associated with ...
  10. ZAP70-Related Combined Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK20221
    ... JB, Buckley M, Wong M. GeneReviews®. 1993 Review Mucopolysaccharidosis Type I [GeneReviews ® . 1993] Review Mucopolysaccharidosis Type I Clarke LA. GeneReviews®. 1993 See reviews... ...
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