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"Niemann-Pick" "disease," type A
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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) ...
- ... 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 ...