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Mutation Report for: S120R_human-LIPA

S120R_human-LIPA
Gene_Locus|human-LIPA
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.358A > C (pSer120Arg) A six months old male patient with respiratory insufficiency and sepsis, abdominal distension, severe hepatosplenomegaly, diarrhea, and severe growth retardation, inherited from the mother and of the known variant c.428 + 1G > T, inherited from the father
    Kinetic parameters|none


    References:
      Title: Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis
      Baronio F, Conti F, Miniaci A, Carfagnini F, Di Natale V, Di Donato G, Testi M, Totaro C, De Fanti A and Pession A <3 more author(s)>
      Ref: Mol Genet Metab Rep, 30:100833, 2022 : PubMed

              

      Title: Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa
      Santos Silva E, Klaudel-Dreszler M, Bakula A, Oliva T, Sousa T, Fernandes PC, Tylki-Szymanska A, Kamenets E, Martins E, Socha P
      Ref: Clin Res Hepatol Gastroenterol, 42:e77, 2018 : PubMed

              




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