Number of the records: 1
Niemannova-Pickova choroba, typ A
Subject h. Niemannova-Pickova choroba, typ A Subject h. Niemann-Pick Disease, Type A Entry terms Niemannova-Pickova choroba typu A
choroba z nedostatku sfingomyelinázy
choroba z deficitu sfingomyelinázyEnglish X references Sphingomyelinase Deficiency Disease Scope note in English The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage. 
subject heading
Number of the records: 1