01767nam 2200385 450 991071976570332120230625130821.03-0365-7460-3(CKB)4960000000467950(NjHacI)994960000000467950(EXLCZ)99496000000046795020230625d2023 uy 0engur|||||||||||txtrdacontentcrdamediacrrdacarrierRare Monogenic Diseases Molecular Pathophysiology and Novel Therapies /edited by Ivano Condò[Place of publication not identified] :MDPI - Multidisciplinary Digital Publishing Institute,2023.1 online resource (250 pages)3-0365-7461-1 The reprint, "Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies", provides a collection of original research articles and systematic reviews focused on diverse conditions stemming from a pathogenic single gene mutation. The articles are focused on the molecular mechanisms that are affected within a rare monogenic disorder, such as those involving gene expression, molecular pathways and cell death. Moreover, specific experimental therapies including drug discovery, drug repositioning, gene therapy and protein-based therapeutics are discussed.Rare Monogenic DiseasesGenetic disordersTreatmentRare diseasesTreatmentGenetic disordersTreatment.Rare diseasesTreatment.616.042Condò IvanoNjHacINjHaclBOOK9910719765703321Rare Monogenic Diseases3391287UNINA