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.153 C>A (p.Tyr51Ter) 3-month-old infant whith hemophagocytic lymphohistiocytosis homozygous mutation
| Title : Two cases of late-onset lysosomal acid lipase deficiency with Achilles tendon thickening - Michikura_2026_J.Clin.Lipidol__ |
| Author(s) : Michikura M , Harada-Shiba M , Matsuki K , Ogura M , Morita H |
| Ref : J Clin Lipidol , : , 2026 |
| Abstract : |
| PubMedSearch : Michikura_2026_J.Clin.Lipidol__ |
| PubMedID: 42493326 |
| Gene_locus related to this paper: human-LIPA |
| Title : A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis - Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| Author(s) : Tinsa F , Ben Romdhane M , Boudabous H , Bel Hadj I , Brini I , Tebib N , Louati H , Bekri S , Boussetta K |
| Ref : J Pediatr Hematol Oncol , 41 :e193 , 2019 |
| Abstract : |
| PubMedSearch : Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| PubMedID: 29702543 |
| Gene_locus related to this paper: human-LIPA |