TY - CHAP M1 - Book, Section TI - Niemann-Pick Disease A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Group of rare inherited disorders of fat metabolism with varying degrees of lipid storage and foam cell infiltration in tissues. Clinical features include jaundice, progressive loss of motor skills, feeding difficulties, learning disabilities, and hepatosplenomegaly. Lysosomal storage disorder caused by deficient activity of the enzyme acid sphingomyelinase (Types A and B) or due to defective function in cholesterol transport (Type C). SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/08 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164080305 ER -