Počet záznamov: 1
Niemannova-Pickova choroba, typ A
Heslo Niemannova-Pickova choroba, typ A Heslo anglicky Niemann-Pick Disease, Type A Odkazy Niemannova-Pickova choroba typu A
choroba z nedostatku sfingomyelinázy
choroba z deficitu sfingomyelinázyAngl. X odkazy Sphingomyelinase Deficiency Disease Vysvetľujúca pozn. v angl. 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. 
predmetové heslo
Počet záznamov: 1