Martins E

Title : SERAC1 Deficiency- A New Phenotype - Martins_2023_Endocr.Metab.Immune.Disord.Drug.Targets__

Author(s) : Martins E , Duraes J , Nogueira C , Gomes J , Vilarinho L , Macario C

Ref : Endocr Metab Immune Disord Drug Targets , : , 2023

Abstract :

PubMedSearch : Martins_2023_Endocr.Metab.Immune.Disord.Drug.Targets__

Gene_locus related to this paper: human-SERAC1

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

Martins E

References (2)

1. SERAC1 Deficiency- A New Phenotype - Martins_2023_Endocr.Metab.Immune.Disord.Drug.Targets__

2. 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