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  1. xmlmplus_topics_2025-01-11.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-01-11.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: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/niemann-pick-disease
    ... TYPE C1; NPC1 NIEMANN-PICK DISEASE, TYPE B NIEMANN-PICK DISEASE, TYPE C2; NPC2 Scientific Articles on PubMed PubMed References Gabande-Rodriguez E, Boya P, Labrador V, Dotti ...
  4. 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 [ ...
  5. NPC2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/npc2
    ... NPC2 Gene and Variant Databases NCBI Gene ClinVar References Chikh K, Vey S, Simonot C, Vanier MT, Millat G. Niemann-Pick type C disease: importance of N-glycosylation sites for function and ...
  6. 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 ...
  7. NPC1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/npc1
    ... This Health Condition Other Names for This Gene Niemann-Pick disease, type C1 NPC Additional ... References Fernandez-Valero EM, Ballart A, Iturriaga C, Lluch ...
  8. SMPD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/smpd1
    ... and tissues. Health Conditions Related to Genetic Changes Niemann-Pick disease At least 175 mutations in the SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann- ...
  9. 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 ...
  10. 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 ...
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