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Results 1 - 10 of 16 for "Sphingomyelin/cholesterol" lipidosis
  1. Niemann-Pick disease 
    ... Neuronal cholesterol lipidosis Neuronal lipidosis NPD Sphingomyelin lipidosis Sphingomyelin/cholesterol lipidosis Sphingomyelinase deficiency Genetic Testing Registry: Niemann-Pick disease, ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  2. Niemann-Pick disease 
    Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called ... organizations can provide support and more information on ... National Institute of Neurological Disorders and Stroke -- www. ...
    https://medlineplus.gov/ency/article/001207.htm - Medical Encyclopedia
  3. 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
  4. Levacetylleucine 
    ... at least 33 pounds (15 kg) who have Niemann-Pick disease type C (NPC; an inherited disease in which ... to treat the neurologic symptoms in patients with Niemann-Pick disease type C.
    https://medlineplus.gov/druginfo/meds/a624063.html - Drugs and Supplements
  5. Arimoclomol 
    ... 2 years of age and older who have Niemann-Pick disease type C (NPC; an inherited disease in which ... works to treat neurologic symptoms in patients with Niemann-Pick disease type C.
    https://medlineplus.gov/druginfo/meds/a624065.html - Drugs and Supplements
  6. ClinicalTrials.gov: Niemann-Pick Diseases From the National Institutes of Health (National Institutes of Health)  
    Genetic Brain Disorders/Clinical Trials ... Genetic Brain Disorders ... National Institutes of Health ... From the National Institutes of Health
    https://clinicaltrials.gov/...ck+Diseases"&aggFilters=status:not rec - External Health Links
  7. NPC2 gene 
    ... the NPC2 gene have been found to cause Niemann-Pick disease type C2. This type of Niemann-Pick disease is characterized by a buildup of fat within ... feeding problems. The NPC2 gene mutations that cause Niemann-Pick disease type C2 reduce or eliminate NPC2 protein activity, ...
    https://medlineplus.gov/genetics/gene/npc2 - Genetics
  8. NPC1 gene 
    ... the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is characterized by a buildup of fat within ... causing the tissue and organ damage seen in Niemann-Pick disease type C1. More About This Health Condition Niemann- ...
    https://medlineplus.gov/genetics/gene/npc1 - Genetics
  9. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease ... Lipid ...
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  10. SMPD1 gene 
    ... the SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann-Pick disease are characterized by a buildup of fat within ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
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