Fumarase deficiency
Apr. 30, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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The index patient (propositus) is marked with a black arrow. Affected males are indicated by solid black squares; female carriers are indicated by a round black circle within the larger circle denoting a woman. Numbers within symbols denote the number of male or female relatives; a question mark denotes subjects unavailable for biochemical and genetic evaluation due to refusal or death. (Source: Cianci V, Pascarella A, Manzo L, et al. Late-onset Fabry disease due to the p.Phe113Leu variant: the first Italian cluster of five families. Metab Brain Dis 2023;38[6]:1905-12. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)