AN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B

Objective: Niemann-Pick disease (NPD) occurs with the storage of lipids including sphingomyelin and cholesterol due to acid sphyngomyelinase deficiency. Based on genetic cause and clinical picture NPD are divided in four main types. The type B is called as non-neuronopathic variant in which many pat...

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Autores principales: Özden ÖZLÜK, Metban GÜZEL MASTANZADE, Beyza ŞEN OLUK, Sevgi KALAYOĞLU BEŞIŞIK, Bezirgen BALLYYEV
Formato: article
Lenguaje:EN
Publicado: Elsevier 2021
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Acceso en línea:https://doaj.org/article/646a65a71b2b463f85702b4012c3af7f
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