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Results 1 - 9 of 9 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. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  4. Levacetylleucine 
    ... in a class of medications called modified amino acids. It is not known how levacetylleucine works to treat the neurologic symptoms in patients with Niemann-Pick disease type C.
    https://medlineplus.gov/druginfo/meds/a624063.html - Drugs and Supplements
  5. Niemann-Pick disease 
    Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect ...
    https://medlineplus.gov/ency/article/001207.htm - Medical Encyclopedia
  6. Lipid Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/lipidmetabolismdisorders.html - Health Topics
  7. 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
  8. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  9. 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