/manager/Index ${session.getAttribute("locale")} 5 Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants /manager/Repository/uon:31058 A variant was observed in homozygosity or compound heterozygosity in 10 patients. We found seven previously reported variants: p.(Trp140*), p.(Arg218*), p.(Gly266*), p.(Thr288Ile), p.(Leu294Ser), p.(His295Tyr) and p.(Gly342Arg) and two novel variants: p.(Asp345Asn), affecting the LAL catalytic triad, and c.229+3A > C, affecting splicing. Homozygosity for p.(Thr288Ile) or c.229+3A > C was associated with a severe phenotype. Conclusions: This study provides additional data on the features of childhood-onset LAL-D and describes two novel pathogenic variants of the LIPA gene.]]> Sat 24 Mar 2018 07:25:47 AEDT ]]> A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease /manager/Repository/uon:4785 Sat 24 Mar 2018 07:20:44 AEDT ]]>