| Title : Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles - Jackson_2023_Genet.Test.Mol.Biomarkers_27_319 |
| Author(s) : Jackson J , Farajzadeh J , Turner R , Yukutake K , Baghdasaryan E , Denis ES , Barseghyan T , Herrera P , Begaj S , Pietruszka M , Valles-Ayoub Y |
| Ref : Genet Test Mol Biomarkers , 27 :319 , 2023 |
| Abstract : |
| PubMedSearch : Jackson_2023_Genet.Test.Mol.Biomarkers_27_319 |
| PubMedID: 37903030 |
| Gene_locus related to this paper: human-LIPA |
| Title : Targeting GNE Myopathy: A Dual Prodrug Approach for the Delivery of N-Acetylmannosamine 6-Phosphate - Morozzi_2019_J.Med.Chem_62_8178 |
| Author(s) : Morozzi C , Sedlakova J , Serpi M , Avigliano M , Carbajo R , Sandoval L , Valles-Ayoub Y , Crutcher P , Thomas S , Pertusati F |
| Ref : Journal of Medicinal Chemistry , 62 :8178 , 2019 |
| Abstract : |
| PubMedSearch : Morozzi_2019_J.Med.Chem_62_8178 |
| PubMedID: 31386361 |
| Title : New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease) - |
| Author(s) : Gomez-Najera M , Barajas-Medina H , Gallegos-Rivas MC , Mendez-Sashida P , Goss KA , Sims KB , Tripuraneni R , Valles-Ayoub Y |
| Ref : J Pediatr Gastroenterol Nutr , 60 :e22 , 2015 |
| PubMedID: 24048164 |
| Gene_locus related to this paper: human-LIPA |
| Title : Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry - Valles-Ayoub_2011_Genet.Test.Mol.Biomarkers_15_395 |
| Author(s) : Valles-Ayoub Y , Esfandiarifard S , No D , Sinai P , Khokher Z , Kohan M , Kahen T , Darvish D |
| Ref : Genet Test Mol Biomarkers , 15 :395 , 2011 |
| Abstract : |
| PubMedSearch : Valles-Ayoub_2011_Genet.Test.Mol.Biomarkers_15_395 |
| PubMedID: 21291321 |