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63 results
  1. Acid Sphingomyelinase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1370
    ... criteria, click here . MedlinePlus Niemann-Pick disease National Niemann-Pick Disease Foundation (NNPDF) Phone: 877-287-3672 Email: nnpdf@ ... jewishgenetics@juf.org www.juf.org/cjg International Niemann–Pick Disease Alliance (INPDA) Phone: 44 (0)191 4150693 Email: ...
  2. Lysosomal Acid Lipase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK305870
    ... mutation of LIPA. Differential Diagnosis Acid sphingomyelinase deficiency (Niemann-Pick disease, types A and B). Overlapping clinical features of lysosomal acid lipase (LAL) deficiency and Niemann-Pick disease types A and B are hepatosplenomegaly, which is ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Niemann-Pick disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. Phosphorylase Kinase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK55061
    ... deficiency: Ketoacidosis Extremely elevated glycerol GK Glycerol kinase Niemann-Pick disease type B 4 (See Acid Sphingomyelinase Deficiency .) AR Growth restriction Hepatomegaly Hyperlipidemia In Niemann-Pick disease type B: Lack of fasting hypoglycemia Significant splenomegaly ...
  5. NLM Digital Collections - Risk estimation and the prevention of cardiovascular disease : a national clinical guideline 
    Publication: Edinburgh, Scotland : Scottish Intercollegiate Guidelines Network (SIGN), June 2017
    resource.nlm.nih.gov/101714866
    ... and Care Excellence | 83 Risk estimation and the prevention of cardiovascular disease NIHR-HTA National Institute for Health Research - Health Technology Assessment NNH number needed to harm NNT number needed to treat NPC1L1 Niemann-Pick C1-Like 1 NRT nicotine replacement therapy OR ...
  6. Glycogen Storage Disease Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1312
    ... nephropathy Significant short stature SMPD1 Chronic visceral ASMD (Niemann-Pick disease type B) 2 (See ASM Deficiency .) AR Hepatomegaly ... of gluconeogenesis; others should also be considered. 2. Niemann-Pick disease type B and Gaucher disease are examples of ...
  7. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... C10.228.140.163.100.435.825.700 Niemann-Pick Diseases C10.228.140.163.100.435.825.700.500 Niemann-Pick Disease, Type A C10.228.140.163.100.435.825.700.750 Niemann-Pick Disease, Type B C10.228.140.163.100.435. ...
  8. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Variant Gangliosidosis, GM1 Gaucher Disease Leukodystrophy, Globoid Cell Niemann-Pick Diseases Niemann-Pick Disease, Type A Niemann-Pick Disease, Type B Niemann- ...
  9. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... C10.228.140.163.100.435.825.700...........................................Niemann-Pick Diseases C10.228.140.163.100.435.825.700.500...........................................Niemann-Pick Disease, Type A C10.228.140.163.100.435. ...
  10. Classic Galactosemia and Clinical Variant Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1518
    ... chronic cholestasis, & end-stage liver disease. NPC1 NPC2 Niemann-Pick disease type C AR Manifestations in perinatal period & infancy ... control. This may require years of intensive therapy. Prevention of Primary Manifestations See Table 8 . Prevention of ...
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