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"Niemann-Pick" disease type C2
- ... the NPC2 gene have been found to cause Niemann-Pick disease type C2. This type of Niemann-Pick disease is characterized ... feeding problems. The NPC2 gene mutations that cause Niemann-Pick disease type C2 reduce or eliminate NPC2 protein activity, which prevents ...
- ... Niemann-Pick disease, type C Genetic Testing Registry: Niemann-Pick disease, type C2 Genetic Testing Registry: Niemann-Pick disease, type D ... acid sphingomyelinase deficiency Infantile neurovisceral acid sphingomyelinase deficiency Niemann-Pick disease type C2 ... Disorders (NORD) ClinicalTrials.gov ...
