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Acute necrosis of oesophagus.
Araújo, Ricardo; Castanheira, António; Machado, Joana; Ramalho, Ana; Cancela, Eugénia; Ministro, Paula; Silva, AméricoAcute esophageal necrosis is a very rare pathological entity, first described in 1990 by Goldenberg. The authors report the case of a patient of 79 years of age with this disease. The etiology of this type of esophageal injury is not yet well defined and has a reported mortality between 33 and 50% . We present this case by the rarity of the disease and the exuberance of endoscopic images in demonstration of thi...
Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a ...
Costa, Elísio; Vieira, Emília; Martins, Marcia; Saraiva, Jorge; Cancela, Eugénia; Costa, Miguel; Bauerle, Roswitha; Freitas, Teresa; Carvalho, JoãoWe describe the molecular study in a cohort of 120 Portuguese patients with the clinical diagnosis of Gilbert syndrome and in one with the diagnosis of Crigler–Najjar syndrome type II, as well as a prenatal diagnosis of Crigler–Najjar syndrome type I. Among the 120 unrelated patients with Gilbert syndrome, 110 were homozygous for the [TA]7 allele ([TA]7/[TA]7), and one patient was a compound heterozygote for tw...
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