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Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Gomez-Mariano, Gema; Perez-Luz, Sara; Ramos-Del Saz, Sheila; Matamala, Nerea; Hernandez-SanMiguel, Esther; Fernandez-Prieto, Marta; Gil-Martin, Sara; Justo, Iago; Marcacuzco, Alberto; Martinez-Delgado, Beatriz.
Afiliação
  • Gomez-Mariano G; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
  • Perez-Luz S; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
  • Ramos-Del Saz S; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
  • Matamala N; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
  • Hernandez-SanMiguel E; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
  • Fernandez-Prieto M; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
  • Gil-Martin S; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
  • Justo I; CIBER de Enfermedades Raras, CIBERER U758, 28029 Madrid, Spain.
  • Marcacuzco A; General and Digestive Surgery Department, Hospital 12 de Octubre, 28041 Madrid, Spain.
  • Martinez-Delgado B; General and Digestive Surgery Department, Hospital 12 de Octubre, 28041 Madrid, Spain.
Int J Mol Sci ; 24(16)2023 Aug 10.
Article em En | MEDLINE | ID: mdl-37628828

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças de Niemann-Pick / Doença de Niemann-Pick Tipo A Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças de Niemann-Pick / Doença de Niemann-Pick Tipo A Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article