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Results 1 - 4 of 4 for Acid sphingomyelinase deficiency
  1. Niemann-Pick disease 
    ... Genetic Testing Registry: Sphingomyelin/cholesterol lipidosis Chronic visceral acid sphingomyelinase deficiency Infantile neurovisceral acid sphingomyelinase deficiency Niemann-Pick disease ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  2. SMPD1 gene 
    ... Brodie SE, Simonaro C, Desnick RJ, McGovern MM. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of ... McGovern MM. The natural history of type B Niemann-Pick disease: results from a 10-year ... Epub 2004 Nov 15. Citation on PubMed
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  3. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... disease , also called neuronal ceroid lipofuscinosis ( PPT1 -related) Niemann-Pick disease ... punctata Sialic acid storage disease , including Salla disease Sickle cell disease , ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  4. NPC1 gene 
    ... Niemann-Pick disease type C1. This type of Niemann-Pick disease is ... block (amino acid) in the NPC1 protein. These mutations usually cause ...
    https://medlineplus.gov/genetics/gene/npc1 - Genetics