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it often depends upon a high index of suspicion engendered by the finding of failure to thrive and Fanconi syndrome

Arq Bras Endocrinol Metabol 57(3):193204 Ralli M, Angeletti D, Fiore M, DAguanno V, Lambiase A, Artico M et al (2020) Hashimotos thyroiditis: an update on pathogenic mechanisms, diagnostic protocols, therapeutic strategies, and potential malignant transformation

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Work from David Savages group showed that PLIN1 mutations from patients with lipodystrophies, which lack the C-terminus, fail to stabilize ABHD5 on LDs, resulting in greater basal lipolysis (137) and likely explains why these patients are unable to sequester FAs into TAGs