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Niemann-Pick Disease Type A/B — Gene Therapy & Clinical Trials | FollowGene
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Niemann-Pick Disease Type A/B
Niemann-Pick Disease Type A/B
Prevalence:
1/250000
lysosomal
Official
·
OMIM:257200
Official
·
ORPHA77292
Acid sphingomyelinase deficiency due to SMPD1 gene mutations.
Associated Genes
SMPD1
Sphingomyelin Phosphodiesterase 1
Chromosome 11
Autosomal Recessive