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1 Ergebnisse
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Adult acid sphingomyelinase deficiency (Niemann-Pick diseas..:
Villarrubia, Jesús
;
Muñoz, Gloria
;
Ciubotariu, Crina
...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S125 , 2022
Link:
https://doi.org/10.1016/j.ymgme.2021.11.332
RT Journal T1
Adult acid sphingomyelinase deficiency (Niemann-Pick disease type B): A difficult pathway to a diagnosis in 4 novel cases
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ymgme.2021.11.332&Exemplar=1&LAN=DE A1 Villarrubia, Jesús A1 Muñoz, Gloria A1 Ciubotariu, Crina A1 Domínguez-Ruiz, María A1 Piris-Villaespesa, Miguel A1 Unceta, María A1 Ceberio, Leticia A1 Church, Heather A1 Norouzi, Mohsen A1 Ross, Mariken A1 Pedro, Iván Pérez-de A1 Stepien, Karolina M. A1 del Castillo, Francisco J. PB Elsevier BV YR 2022 SN 1096-7192 JF Molecular Genetics and Metabolism VO 135 IS 2 SP S125 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgme.2021.11.332 DO https://doi.org/10.1016/j.ymgme.2021.11.332 SF ELIB - SuUB Bremen
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