Neurobehavioral & Cognitive Disorders
Fragile X syndrome
Mar. 29, 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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In a patient with Gaucher disease type 1 (GBA1 genotype p.Asn409Ser/c.217delC mutations), MRI revealed diffuse bone marrow signal abnormality throughout the left femur consistent with avascular osteonecrosis. (Source: Basiri M, Ghaffari ME, Ruan J, et al. Osteonecrosis in Gaucher disease in the era of multiple therapies: biomarker set for risk stratification from a tertiary referral center. Elife 2023;12:e87537. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)