| Title : Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening - de Castro Lopez_2025_Int.J.Neonatal.Screen_11_ |
| Author(s) : de Castro Lopez MJ , White FJ , Holmes V , Roberts J , Wu THY , Cooper JA , Church HJ , Petts G , Wynn RF , Jones SA , Ghosh A |
| Ref : Int J Neonatal Screen , 11 : , 2025 |
| Abstract : |
| PubMedSearch : de Castro Lopez_2025_Int.J.Neonatal.Screen_11_ |
| PubMedID: 40136632 |
| 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 : Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease - Potter_2021_Orphanet.J.Rare.Dis_16_235 |
| Author(s) : Potter JE , Petts G , Ghosh A , White FJ , Kinsella JL , Hughes S , Roberts J , Hodgkinson A , Brammeier K , Church H , Merrigan C , Hughes J , Evans P , Campbell H , Bonney D , Newman WG , Bigger BW , Broomfield A , Jones SA , Wynn RF |
| Ref : Orphanet J Rare Dis , 16 :235 , 2021 |
| Abstract : |
| PubMedSearch : Potter_2021_Orphanet.J.Rare.Dis_16_235 |
| PubMedID: 34020687 |
| Gene_locus related to this paper: human-LIPA |