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27 results
  1. Multiple Sulfatase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK538937
    ... AR Neurodegeneration, DD, hepatosplenomegaly (<50% of persons w/Sanfilippo syndrome) May have slower, more insidious course presenting mainly w/cognitive & neurologic signs & symptoms MPS IV (Morquio syndrome) (See MPS IVA , GLB1 - ...
  2. Acid mucopolysaccharides 
    https://medlineplus.gov/ency/article/003368.htm
    ... Scheie syndromes (MPS I), Hunter syndrome (MPS II), Sanfilippo syndrome (MPS III), Morquio syndrome (MPS IV), Maroteaux-Lamy syndrome (MPS VI), and Sly syndrome (MPS VII). Most of the time, this test is done in infants who may have a symptom or family history of one of these disorders.
  3. Mucopolysaccharidosis Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546574
    ... elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. ... type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the ...
  4. Aspartylglucosaminuria - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK599378
    ... phenotype than AGU. ML III has more cardiorespiratory symptoms than ... syndrome) AR Neurodevelopmental delay & challenging behaviors w/progressive mobility ...
  5. Mucopolysaccharidosis type III 
    https://medlineplus.gov/ency/article/001210.htm
    MPS III; Sanfilippo syndrome; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Lysosomal storage disease - mucopolysaccharidosis type III ... Pearse Y, Iacovino M. A cure for Sanfilippo syndrome? A summary of current ... Med Res Arch . 2020;8(2):10. PMID: 32733997 pubmed.ncbi.nlm.nih.gov/ ...
  6. Carbohydrate Metabolism Disorders 
    https://medlineplus.gov/carbohydratemetabolismdisorders.html
    ... from MEDLINE/PubMed (National Library of Medicine) Article: Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome. ... (Nemours Foundation) Also in Spanish ...
  7. Mucopolysaccharidosis type III 
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii
    ... Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab. ...
  8. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain ... MPS III</synonym><synonym >Mucopolysaccharidosis III</synonym><synonym >Sanfilippo syndrome</synonym></synonym-list><db-key-list ><db-key >< ...
  9. 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:// ...
  10. 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; ...
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