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91 results

  1. xmlmplus_topics_2025-10-01.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-10-01.xml
    ... Maple Syrup Urine Disease</see-reference><see-reference >Niemann-Pick Disease</see-reference><site ><information-category >Genetics</information-category><organization >National ...
  2. Genetic Brain Disorders | MedlinePlus 
    https://medlineplus.gov/geneticbraindisorders.html
    ... Metabolic, Inborn (National Institutes of Health) ClinicalTrials.gov: Niemann-Pick Diseases (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  3. Niemann-Pick Disease Type C - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1296
    ... of disease causation. Loss of function Table 8. Niemann-Pick Disease Type C: Notable Pathogenic Variants by Gene View in own window Gene Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...
  4. Acid Sphingomyelinase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1370
    ... disease type A); NPD-B = chronic visceral ASMD (Niemann-Pick disease type B) ... for an explanation of nomenclature. 1. Variant designation ...
  5. 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 ...
  6. Gaucher Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1269
    ... 256550 ) Hepatosplenomegaly, hydrops fetalis, myoclonic seizures NPC1 NPC2 Niemann-Pick disease type C Hepatosplenomegaly, hydrops fetalis SLC17A5 Infantile free ...
  7. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Acadian ... 
    https://www.ncbi.nlm.nih.gov/books/NBK580717
    ... NM_152416 ​.4 Hartmannová et al [2016] NPC1 Niemann-Pick disease type C AR c.2974G>T p.Gly992Trp ~ ... PE. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a 3097G-T transversion in ...
  8. 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. ...
  9. pdf1-20-1969-70.pdf 
    https://www.nlm.nih.gov/.../nlmarchives/techbull/1-20-1969-70.pdf
    ... HEPATOLENTICULAR DEGENERATION HOMOCYSTINURIA *LIPOCHONDRODYSTROPHY MAPLE SYRUP URINE DISEASE NIEMANN-PICK DISEASE PHENYLKETONURIA WERNICKE'S ENCEPHALOPATHY BRAIN EDEMA PSEUDOTUMOR CEREBRI CEREBRAL ...
  10. Lipid Metabolism Disorders 
    https://medlineplus.gov/lipidmetabolismdisorders.html
    ... with myopathy: MedlinePlus Genetics (National Library of Medicine) Niemann-Pick disease: MedlinePlus Genetics (National Library of Medicine) Primary carnitine ...
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