TY  - JOUR
AU  - Pérez Luz, Sara
AU  - Gómez Mariano, Gema
AU  - Ramos del Saz, Sheila
AU  - Matamala, Nerea
AU  - Hernández Sanmiguel, Esther
AU  - Fernández Prieto, Marta
AU  - Gil Martín, Sara
AU  - Justo Alonso, Iago
AU  - Marcacuzco Quinto, Alberto Alejandro
AU  - Martínez Delgado, Beatriz
PY  - 2023
DO  - 10.3390/ ijms241612645
UR  - https://hdl.handle.net/20.500.14352/102012
T2  - International Journal of Molecular Sciences
AB  - Acid sphingomyelinase deficiency (ASMD) or Niemann–Pick disease type A (NPA), type B (NPB) and type A/B (NPA/B), is a rare lysosomal storage disease characterized by progressive accumulation of sphingomyelin (SM) in the liver, lungs, bone marrow and,...
LA  - eng
PB  - MDPI
KW  - Acid sphignoimylinase deficiency (ASMD)
KW  - Niemann–Pick type B
KW  - Organoids
KW  - Liver
KW  - Lipids
KW  - Lysosome
KW  - SMPD1 gene
TI  - Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis
TY  - journal article
ER  -