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Esophagogastroduodenoscopy (EGD) is crucial in patients with cirrhosis for screening and follow-up of esophageal or gastric varices, which are manifestations of portal hypertension

Dahl-Larsen R, Jakobsen PR, Sndergaard J, Henriksen JE, Assing Hvidt E

Our results for the first time demonstrate that biallelic variants in BBOX1 cause a clinical and biochemical phenotype that is consistent with a deficiency in endogenous carnitine synthesis