Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
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
| Title : Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis - Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| Author(s) : Baronio F , Conti F , Miniaci A , Carfagnini F , Di Natale V , Di Donato G , Testi M , Totaro C , De Fanti A , Boenzi S , Dionisi-Vici C , Esposito S , Pession A |
| Ref : Mol Genet Metab Rep , 30 :100833 , 2022 |
| Abstract : |
| PubMedSearch : Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| PubMedID: 35242567 |
| Gene_locus related to this paper: human-LIPA |
| Title : Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa - Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77 |
| Author(s) : 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 |
| Abstract : |
| PubMedSearch : Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77 |
| PubMedID: 29705274 |
| Gene_locus related to this paper: human-LIPA |