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Results 1 - 10 of 14 for "Niemann-Pick" "disease," type A
  1. NPC2 gene 
    ... the NPC2 gene have been found to cause Niemann-Pick disease type C2. This type of Niemann-Pick disease is ... feeding problems. The NPC2 gene mutations that cause Niemann-Pick disease type C2 reduce or eliminate NPC2 protein activity, which ...
    https://medlineplus.gov/genetics/gene/npc2 - Genetics
  2. NPC1 gene 
    ... the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is ... causing the tissue and organ damage seen in Niemann-Pick disease type C1. More About This Health Condition Niemann-Pick ...
    https://medlineplus.gov/genetics/gene/npc1 - Genetics
  3. Niemann-Pick disease 
    ... signs and symptoms of the condition.Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen ( ... mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  4. SMPD1 gene 
    ... the SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann-Pick ... complete loss of enzyme function tend to cause Niemann-Pick disease type A. In the Ashkenazi (eastern and central European) ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  5. Niemann-Pick disease 
    ... Organization for Rare Disorders -- rarediseases.org/rare-diseases/niemann-pick-disease-type-c ... provider if you have a family history of Niemann-Pick disease and you ... Developmental problems Feeding problems Poor weight gain
    https://medlineplus.gov/ency/article/001207.htm - Medical Encyclopedia
  6. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Gaucher Disease/Learn More ... Gaucher Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  7. Volunteer Stories From the National Institutes of Health (National Institutes of Health)  
    Clinical Trials/Specifics ... Clinical Trials ... National Institutes of Health ... From the National Institutes of Health ... Comments from volunteers participating in clinical ...
    https://www.nih.gov/.../personal-stories - External Health Links
  8. Niemann-Pick Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Lipid Metabolism Disorders/Specifics ... Lipid Metabolism Disorders ... National Institute of Neurological ...
    https://www.ninds.nih.gov/.../disorders/niemann-pick-disease - External Health Links
  9. 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
  10. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... called MCAD deficiency Maple syrup urine disease Mucolipidosis type IV CLN5 disease , also called neuronal ceroid lipofuscinosis ( CLN5 -related) CLN1 disease , also called neuronal ceroid lipofuscinosis ( PPT1 -related) Niemann-Pick disease Nijmegen breakage syndrome Nonsyndromic hearing loss Pendred ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
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