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Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE
(Universidade Federal do Rio Grande do NorteBRUFRNPrograma de Pós-Graduação em Ciências da SaúdeCiências da Saúde, 2011-05-30)
Background. Gaucher Disease (GD) is a hereditary lysosomal storage disorder
characterized by the accumulation of glucosylceramide, mainly in the cells of the
reticuloendothelial system, due to a deficiency of the enzyme ...
Ophthalmic manifestations in Mexican patients with Fabry disease [Manifestaciones oftalmológicas en pacientes mexicanos con enfermedad de Fabry]
(2012)
Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, ...
Histopathological lesions in central nervous system of goats poisoned by Ipomoea carnea
(Universidad Nacional del Nordeste, 2008)
Variabilidade sazonal no ducto epididimário de codorna doméstica: observações morfológicas
(Colégio Brasileiro de Patologia Animal - CBPA, 2007-12-01)
O ducto epididimário (DE) de codorna doméstica mostrou, ao longo do ano, variabilidade pequena, porém muito expressiva no outono, o qual corresponde à fase quiescente do ciclo testicular anual. A morfologia do DE na primavera ...
Nosology and phenomenology of psychosis in movement disorders
(Wiley, 2020)
Background: Psychotic symptoms, such as delusions and hallucinations, are part of the clinical picture of several conditions presenting movement disorders. Phenomenology and epidemiology of psychosis in Parkinson's disease ...
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
(NATURE PUBLISHING GROUP, 2016)
Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase ...
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world
(Wiley, 2020)
Aim: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder
caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive ...
Lack of activation of the unfolded protein response in mouse and cellular models of Niemann-Pick type C disease
(2011)
Background: Niemann-Pick type C (NPC) disease is a fatal lysosomal storage disease related to progressive neurodegeneration secondary to abnormal intracellular accumulation of cholesterol. Signs of endoplasmic reticulum ...
Lack of Annexin A6 exacerbates liver dysfunction and reduces lifespan of NPC1- deficient mice
(Elsevier Inc./ American Society for Investigative Pathology, 2020)
Niemann-Pick type C disease (NP-C) is a lysosomal storage disorder characterized by cholesterol accumulation caused by loss-of-function mutations in the Npc1 gene. NP-C disease primarily affects the brain, causing neuronal ...
Osteomalacia as an extraintestinal manifestation of Celiac disease in a patient treated for Gaucher disease
(Elsevier, 2020-07)
Gaucher disease (GD) is the most prevalent lysosomal storage disorder. Bone marrow infiltration by Gaucher cells and the subsequent inflammatory events cause bone lesions, which frequently accompany anemia, thrombocytopenia, ...