Search results for " Niemann–Pick disease deficiency"

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AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.

2020

Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins. The consequence is a progressive accumulation of substrates in these intracellular organelles, resulting in cellular and tissue damage. The overall incidence is about 1/8000 live births, but is likely underestimated. LSDs are chronic progressive multi-systemic disorders, generally presenting with visceromegaly, and involvement of the central nervous system, eyes, the skeleton, and the respiratory and cardiovascular systems. The age at onset and phenotypic expression are highly variable, according to the specific enzymatic d…

AdultHepatosplenomegalyLysosomal acid lipase deficiencyBioinformaticsOrganomegaly03 medical and health sciencesLiver disease0302 clinical medicinemedicineCholesteryl ester storage disease Enzyme replacement therapy Gaucher disease Lysosomal acid lipase Niemann–Pick disease deficiency Substrate reduction therapyHumansSubstrate reduction therapyEnzyme Replacement TherapySocieties MedicalNiemann-Pick DiseasesAcid sphingomyelinase deficiencyGaucher DiseaseHepatologybusiness.industryGastroenterologyWolman DiseaseEnzyme replacement therapymedicine.diseaseLysosomal Storage DiseasesSphingomyelin PhosphodiesteraseItaly030220 oncology & carcinogenesis030211 gastroenterology & hepatologymedicine.symptombusinessNiemann–Pick diseaseLysosomesVisceromegalyDigestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
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