Results 21 to 30 of about 3,245 (185)
Deficiency of a Niemann-Pick, type C1-related protein in toxoplasma is associated with multiple lipidoses and increased pathogenicity. [PDF]
PLoS Pathogens, 2011 Several proteins that play key roles in cholesterol synthesis, regulation, trafficking and signaling are united by sharing the phylogenetically conserved 'sterol-sensing domain' (SSD).
Bao Lige +7 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 1955 Les lipidoses constituent un groupe d'affections systématisées, caractérisées par une surcharge lipidique des tissus (en premier lieu du système réticulo-endothélial, accessoirement aussi de divers parenchymes).
D. Klein, A. Franceschetti, J. Babel
doaj +1 more source
Estudo da doença de Gaucher em Santa Catarina Study of Gaucher disease in Santa Catarina
Revista Brasileira de Hematologia e Hemoterapia, 2008 A doença de Gaucher (DG) foi a primeira doença de armazenamento lisossomal descrita e a mais encontrada. Caracteriza-se pela deficiência hereditária da atividade da enzima lisossomal glucocerebrosidase, que bloqueia o metabolismo do glicocerebrosídeo.
Jovino S. Ferreira +2 more
doaj +1 more source
Leucodistrofia metacromática: registro de um caso
Arquivos de Neuro-Psiquiatria, 1980 É relatado um caso de leucodistrofia metacromática em paciente com três anos de idade. O exame histopatológico revelou inclusões metacromáticas dentro do citoplasma dos neurônios, o que permite comentar sobre a fisiopatogenia desta doença, grupando-a ...
Osvaldo J. M. Nascimento +3 more
doaj +1 more source
Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations
Molecular Genetics &Genomic Medicine, Volume 8, Issue 8, August 2020., 2020 For the first time APOE‐Osaka/Kurashiki and APOE‐Chicago mutations reported in Chinese; Lipoprotein glomerulopathy (LPG) patients with urine protein remission had slower renal function decrease; LPG was associated with higher blood pressure; Serum apoE levels were higher in patients with low‐density lipoprotein receptor binding region mutations of APOE
Mingxin Yang +13 more
wiley +1 more source
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
Traffic, Volume 21, Issue 1, Page 60-75, January 2020., 2020 Over the last decade, we witnessed an unprecedented interest in lysosomes, most prominently as catabolic centers and as intracellular signaling platforms. Interestingly, lysosomal activity is strongly dependent on organelle numbers, size and position. The dynamic nature of lysosomes has been extensively documented but the importance of lysosomal size ...
Mariana E. G. de Araujo +3 more
wiley +1 more source
Metabolomic studies of lipid storage disorders, with special reference to Niemann-Pick type C disease: a critical review with future perspectives [PDF]
, 2020 Lysosomal storage disorders (LSDs) are predominantly very rare recessive autosomal neurodegenerative diseases.Sphingolipidoses, a sub-group of LSDs, result from defects in lysosomal enzymes involved in sphingolipid catabolism, and feature disrupted ...
Gibson, M +4 more
core +2 more sources
Orphanet Journal of Rare Diseases, 2010 Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Vanier Marie T
doaj +1 more source
Better a Broader Diagnosis Than a Misdiagnosis: The Study of a Neoplastic Condition in a Male Individual who Died in Early 20th Century (Coimbra, Portugal) [PDF]
, 2013 The paleopathological record of neoplastic conditions in the past is considered scarce. The detection of tumours in ancient populations is hindered by the quality and quantity of signs visible on the skeleton, the methodological approach, the ...
Cunha, Eugénia +2 more
core +2 more sources