| Title : Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease - de Las Heras_2024_Nutrients_16_4309 |
| Author(s) : de Las Heras J , Almohalla C , Blasco-Alonso J , Bourbon M , Couce ML , de Castro Lopez MJ , Garcia Jimenez MC , Gil Ortega D , Gonzalez-Dieguez L , Meavilla S , Moreno-Alvarez A , Pastor-Rosado J , Sanchez-Pintos P , Serrano-Gonzalo I , Lopez E , Valdivielso P , Yahyaoui R , Quintero J |
| Ref : Nutrients , 16 :4309 , 2024 |
| Abstract : |
| PubMedSearch : de Las Heras_2024_Nutrients_16_4309 |
| PubMedID: 39770929 |
| Title : Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease - de Las Heras_2024_Nutrients_16_4309 |
| Author(s) : de Las Heras J , Almohalla C , Blasco-Alonso J , Bourbon M , Couce ML , de Castro Lopez MJ , Garcia Jimenez MC , Gil Ortega D , Gonzalez-Dieguez L , Meavilla S , Moreno-Alvarez A , Pastor-Rosado J , Sanchez-Pintos P , Serrano-Gonzalo I , Lopez E , Valdivielso P , Yahyaoui R , Quintero J |
| Ref : Nutrients , 16 :4309 , 2024 |
| Abstract : |
| PubMedSearch : de Las Heras_2024_Nutrients_16_4309 |
| PubMedID: 39770929 |
| Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109 |
| Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM |
| Ref : Genet Med , 20 :109 , 2018 |
| Abstract : |
| PubMedSearch : Regal_2018_Genet.Med_20_109 |
| PubMedID: 28726805 |
| Gene_locus related to this paper: human-PREPL |
| Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109 |
| Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM |
| Ref : Genet Med , 20 :109 , 2018 |
| Abstract : |
| PubMedSearch : Regal_2018_Genet.Med_20_109 |
| PubMedID: 28726805 |
| Gene_locus related to this paper: human-PREPL |