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Artigo Revisado por pares
BIBTEX RIS

Adult acid sphingomyelinase deficiency (Niemann-Pick disease type B): A difficult pathway to a diagnosis in 4 novel cases

2022; Elsevier BV; Volume: 135; Issue: 2 Linguagem: Inglês

10.1016/j.ymgme.2021.11.332

ISSN

1096-7206

Autores

Jesús Villarrubia, Gloria Muñoz, Crina Ciubotariu, María Domínguez-Ruiz, Miguel Piris‐Villaespesa, María Unceta, Leticia Ceberio, Heather J. Church, Mohsen Norouzi, Mariken Ross, Iván Pérez‐de Pedro, Karolina M. Stępień, Francisco Castillo,

Tópico(s)

Sphingolipid Metabolism and Signaling

Referência(s)