Couce ML

References (3)

Title : Twice weekly dosing with Sebelipase alfa (Kanuma) rescues severely ill infants with Wolman disease - de Castro_2024_Orphanet.J.Rare.Dis_19_244
Author(s) : de Castro MJ , Jones SA , de Las Heras J , Sanchez-Pintos P , Couce ML , Colon C , Crujeiras P , Unceta M , Church H , Brammeier K , Yee WH , Cooper J , Lopez de Frutos L , Serrano-Gonzalo I , Camba MJ , White FJ , Holmes V , Ghosh A
Ref : Orphanet J Rare Dis , 19 :244 , 2024
Abstract :
PubMedSearch : de Castro_2024_Orphanet.J.Rare.Dis_19_244
PubMedID: 38918870
Gene_locus related to this paper: human-LIPA

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 : Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders - Fernandez-Marmiesse_2014_Orphanet.J.Rare.Dis_9_59
Author(s) : Fernandez-Marmiesse A , Morey M , Pineda M , Eiris J , Couce ML , Castro-Gago M , Fraga JM , Lacerda L , Gouveia S , Perez-Poyato MS , Armstrong J , Castineiras D , Cocho JA
Ref : Orphanet J Rare Dis , 9 :59 , 2014
Abstract :
PubMedSearch : Fernandez-Marmiesse_2014_Orphanet.J.Rare.Dis_9_59
PubMedID: 24767253