TY  - GEN
AU  - Gomez-Mariano, Gema Maria
AU  - Perez-Luz, Sara
AU  - Ramos-Del Saz, Sheila
AU  - Matamala, Nerea
AU  - Hernandez-SanMiguel, Esther
AU  - Fernandez-Prieto, Marta
AU  - Gil-Martín, Sara
AU  - Justo, Iago
AU  - Marcacuzco, Alberto
AU  - Martinez-Delgado, Beatriz
PY  - 2023
DO  - 10.3390/ijms241612645
UR  - http://hdl.handle.net/20.500.12105/16371
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  - Multidisciplinary Digital Publishing Institute (MDPI)
KW  - Acid sphignoimylinase deficiency (ASMD)
KW  - Niemann-Pick type B
KW  - Organoids
KW  - Liver
KW  - Lipids
KW  - Lysosome
KW  - SMPD1 gene
KW  - Niemann-Pick Disease, Type A
KW  - Niemann-Pick Diseases
KW  - Humans
KW  - Sphingomyelins
KW  - Liver
KW  - Gene Expression
TI  - Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis
TY  - research article
ER  -