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  1. xmlmplus_topics_2025-04-29.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-04-29.xml
    ... related-topic >Metabolic Disorders</related-topic><see-reference >Mucopolysaccharidoses</see-reference><site ><information-category >Encyclopedia</information-category><organization >Medical ...
  2. Excluded Studies - Diagnosis and Management of Infantile Hemangioma - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344066
    ... et al. Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference center. J Inherit Metab Dis. 2014 Jan; 37 ( ...
  3. Carbohydrate Metabolism Disorders 
    https://medlineplus.gov/carbohydratemetabolismdisorders.html
    ... Inborn Errors (National Institutes of Health) ClinicalTrials.gov: Mucopolysaccharidoses (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  4. Mucopolysaccharidosis Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546574
    ... Table 8. Notable Pathogenic Variants in Genes Causing Mucopolysaccharidosis Type III View in own window Gene 1 Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...
  5. Mucopolysaccharidosis Type VII - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK598990
    ... The authors wish to thank the individuals with mucopolysaccharidosis type VII (MPS VII) and their families along with international research ... Cited Giugliani R, Barth AL, Dumas MRC, ...
  6. Mucopolysaccharidosis Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1274
    ... posted live 8 June 2007 (rm) Original submission References Literature Cited Annibali R, Caponi L, Morganti A, Manna M, Gabrielli O, Ficcadenti A. Hunter syndrome (mucopolysaccharidosis type II), severe phenotype: long term follow-up ...
  7. Mucopolysaccharidosis Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1162
    ... may contain more recent information. — ED. Table A. Mucopolysaccharidosis Type I: Genes and ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  8. Mucopolysaccharidosis Type IVA - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK148668
    ... may contain more recent information. — ED. Table A. Mucopolysaccharidosis Type IVA : ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  9. Appendix References - Enzyme-Replacement Therapies for Lysosomal Storage Diseases - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK117215
    ... 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. [ ...
  10. Adenine Phosphoribosyltransferase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100238
    ... APRT and GALNS , pathogenic variants in which cause mucopolysaccharidosis type IVA , have been reported ... Reference Sequences DNA Nucleotide Change (Alias 1 ) Predicted Protein ...
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