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13 results
  1. Mucopolysaccharidosis Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546574
    ... 3. See Genotype-Phenotype Correlations . 4. See Prevalence . References Literature Cited Andrade F, Aldámiz-Echevarría L, Llarena M, Couce ML. Sanfilippo syndrome: Overall review. Pediatr Int. 2015; 57 :331–8. [ ...
  2. Carbohydrate Metabolism Disorders 
    https://medlineplus.gov/carbohydratemetabolismdisorders.html
    ... gov: Mucopolysaccharidoses (National Institutes of Health) ... (Nemours Foundation) Also in Spanish ...
  3. Multiple Sulfatase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK538937
    ... corneal clouding not a typical feature MPS III (Sanfilippo syndrome) (OMIM 252900 , 252920 , 252930 , 252940 ) GNS HGSNAT NAGLU ... AR Neurodegeneration, DD, hepatosplenomegaly (<50% of persons w/Sanfilippo syndrome) May have slower, more insidious course presenting mainly ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... other_name >Mucopolysaccharidosis III</other_name><other_name >Sanfilippo syndrome</other_name></other_names></topic><topic ><url >https:// ...
  5. Aspartylglucosaminuria - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK599378
    ... early adulthood GNS HGSNAT NAGLU SGSH MPS III (Sanfilippo syndrome) AR Neurodevelopmental delay & challenging behaviors w/progressive mobility ... posted live 14 August 2023 (kg) Original submission References Literature Cited Anna T, Nina B, Antti H, ...
  6. Excluded Studies - Medical Therapies for Children With Autism Spectrum Disorder—An Update - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK448263
    ... A, et al. Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale. Mol Genet Metab. 2015 Apr; ... Zhang X, Ren J, et al. Validation of reference genes for quantitative real-time PCR in valproic ...
  7. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... A, et al. Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale. Mol Genet Metab. 2015 Apr; ... Zhang X, Ren J, et al. Validation of reference genes for quantitative real-time PCR in valproic ...
  8. Appendix References - Noninvasive Testing for Coronary Artery Disease - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK361159
    ... Contents Search term < Prev Next > Appendix L Appendix References 1. Chang SA, Choi SI, Choi EK, et ... Comparative Effectiveness Reviews, No. 171.) Appendix L, Appendix References. PDF version of this title (3.5M) Other ...
  9. Birt-Hogg-Dubé Syndrome (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK568510
    ... 14 ] Metastatic disease, although described, is rare.[ 14 ] References Toro JR, Wei MH, Glenn GM, et al.: ... Anticipation is not known to occur in BHD. References Nickerson ML, Warren MB, Toro JR, et al.: ...
  10. List of Included and Excluded Studies - Diagnosis of Right Lower Quadrant Pain and Suspected Acute Appendicitis - NCBI .... 
    https://www.ncbi.nlm.nih.gov/books/NBK355436
    ... 77. [ PubMed : 12182210 ] B-13. Rejection Reason: No Reference Standard or Reference Standard Not Approved 1. Asch E, Shah S, ... 8. [ PubMed : 1331971 ] 6. [Appendicitis. Recommendations and medical references. Agence Nationale pour le Developpement de l’Evaluation ...
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