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Summary
NIEMANN-PICK DISEASE TYPE B
607616
OMIM = Online Medalian Inheritance of Men
77293
11p15.4
  • no specific treatment
> 100 cases (all forms)
autosomal recessive
different phenotypes
symptoms
cherry-red spot on retinal macula
early death
hepatomegaly (large liver)
interstitial pneumonitis
onset, child
splenomegaly (large spleen)
laboratory finding
Acid sphingomyelinase5.0010.00 % of normalfibroblasts
Sphingomyelin increasedtissue
Foam cells, bone marrow bone marrow
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994