Article
Two siblings with Niemann-Pick disease (NPD) type B: clinical findings and novel mutations of the acid sphingomyelinase gene.
Indian journal of pediatrics - 1 Feb 2013
Gucev Zoran, Tasic Velibor, Pop-Jordanova Nada, Jancevska Aleksandra, Simonaro Calogera M, Schuchmann Edward H
Abstract excerpt
Acid sphingomyelinase deficiency leads to the accumulation of sphingomyelin in cells, causing Niemann-Pick disease (NPD) types A/B. RF (13.66 y) and HF (3 y) are brother and sister. RF growth was markedly delayed at the age of 12.66 y (123 cm; -3.25 SD), while at the age 3 y his sister is 86 cm (-2.75 SD). The brother had a huge liver (13 cm) and spleen (12 cm). His sister also had an enlarged liver, but...
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