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Genchi G, Sinicropi MS, Lauria G, Carocci A, Catalano A
Published 2016 Sep 29
Indeed, deletions or mutations of the SHANK3 gene have been found both in patients with PMS, which occur in over 50% of ASD patients [338], and in ASD patients outside the PMS
Comment Definitive diagnosis of phospholipidosis is not possible based strictly on H&E-stained liver sections
Mai 2023 07:14 10
Genetic mutations that give rise to the deficiency of FMO3 cause a disorder called trimethylaminuria, in which TMA is excreted in body fluids such as urine, sweat, and breath, with the characteristic fishy odor
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