Carnitine-acylcarnitine translocase deficiency
Aug. 24, 2022
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Generalized osteopenia and lytic areas in humeri. (Source: D'Amore S, Page K, Donald A, et al. In-depth phenotyping for clinical stratification of Gaucher disease. Orphanet J Rare Dis 2021;16:431. Creative Commons Attribution 4.0 International License, http://creativecommons.org/licenses/by/4.0.)