[The current state of Niemann-Pick disease: evaluation of six cases]

Autor: J, González de Dios, E, Fernández Tejada, M C, Díaz Fernández, E, Ortega Páez, J, Hernández González, A, de la Vega Bueno, L, Hierro Llanillo, J, Larrauri Martínez, P, Jara Vega
Rok vydání: 1990
Předmět:
Zdroj: Anales espanoles de pediatria. 32(2)
ISSN: 0302-4342
Popis: Six pediatric patients with Niemann-Pick disease are reported. They have been studied at Hepatology Unit HI "La Paz" (Madrid) in the period of time between 1975-1988. They are one case of type A, one case of type B and four cases of type C. This group of pediatric patients serve us to make a revision of the disease attending to clinical and biochemical classification aspects, diagnosis and treatment. We insist on two aspects: 1) greater importance of enzymatic diagnose for the "Niemann-Pick complex", in view of the overlapping of clinical symptoms, 2) bone-marrow transplantation as therapeutic alternative and its indications.
Databáze: OpenAIRE