Resumo

PARDO ECHEVERRIA, Liz Carolina; ARRIETA VIOLET, Leopoldo Antonio  e  SEABRA SOUZA, Fernanda Timm. Positive Biochemical Diagnosis in Patients with Clinical Suspicion of Niemann Pick C. Ciencia en Desarrollo [online]. 2016, vol.7, n.2, pp.31-41. ISSN 0121-7488.

Abstract Filipin staining test was made from cultured fibroblasts from skin biopsies from 73 patients clinically candidates of developing the neurodegenerative disease autosomal recessive Niemann Pick C, referred by the neurology and genetics in the country. Qualitative analysis by perinuclear fluorescence intensity, the positive biochemical diagnosis was identified in 23 patients. The t test allowed inferring that not statistically significant differences in relation to age (1->45 years) and gender of patients.

Palavras-chave : Cell lysis; Filipin staining test; Lipid trafficking intracelular; low density lipoproteins-LDL; Lysosomal storage; Niemann Pick type C disease.

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