000089659 001__ 89659
000089659 005__ 20210902121655.0
000089659 0247_ $$2doi$$a10.1186/s12881-020-01027-9
000089659 0248_ $$2sideral$$a117762
000089659 037__ $$aART-2020-117762
000089659 041__ $$aeng
000089659 100__ $$aOrdieres-Ortega, L.
000089659 245__ $$aNiemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management
000089659 260__ $$c2020
000089659 5060_ $$aAccess copy available to the general public$$fUnrestricted
000089659 5203_ $$aBACKGROUND: Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. CASE PRESENTATION: We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G¿>¿A]) in which both mutations that induce an early stop codon are located before the second in-frame initiation codon. The clinical presentation of the patient is compatible with NPD type B. She was initially diagnosed of Gaucher Disease, but her altered lipid profile led to a clinical suspicion of NPD. Combined high doses of atorvastatin and ezetimibe were given to treat the severe hypercholesterolemia. CONCLUSIONS: The pharmacological management of the lipid profile in these patients is important. A unique compound mutation in SMPD1 gene is described.
000089659 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000089659 590__ $$a2.103$$b2020
000089659 591__ $$aGENETICS & HEREDITY$$b131 / 175 = 0.749$$c2020$$dQ3$$eT3
000089659 592__ $$a0.669$$b2020
000089659 593__ $$aGenetics (clinical)$$c2020$$dQ3
000089659 593__ $$aGenetics$$c2020$$dQ3
000089659 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000089659 700__ $$aGaleano-Valle, F.
000089659 700__ $$aMallén-Pérez, M.
000089659 700__ $$aMuñoz-Delgado, C.
000089659 700__ $$aApaza-Chavez, J.E.
000089659 700__ $$aMenárguez-Palanca, F.J.
000089659 700__ $$aAlvarez-Sala Walther, L.A.
000089659 700__ $$aDemelo-Rodríguez, P.
000089659 773__ $$g21 (2020), 94 [6 pp.]$$pBMC Medical Genetics$$tBMC medical genetics$$x1471-2350
000089659 8564_ $$s1060349$$uhttps://zaguan.unizar.es/record/89659/files/texto_completo.pdf$$yVersión publicada
000089659 8564_ $$s44545$$uhttps://zaguan.unizar.es/record/89659/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000089659 909CO $$ooai:zaguan.unizar.es:89659$$particulos$$pdriver
000089659 951__ $$a2021-09-02-09:09:42
000089659 980__ $$aARTICLE