2021
DOI: 10.14740/jmc3747
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M680I/M694V Heterozygous Mutation in Early Onset Familial Mediterranean Fever

Abstract: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder affecting individuals with biallelic pathogenic mutations in the MEFV gene. The disease is characterized by recurrent attacks of fever and serosal inflammation as manifested by abdominal and chest pain. This case report presents an FMF case with a 3-year history of pain crises consisting of severe abdominal pain and fever, lasting up to 72 h. Genetic investigation identified an uncommon heterozygous mutation in the MEFV gene. This mut… Show more

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Cited by 7 publications
(2 citation statements)
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“…Successful treatment of patients with dyslipidemia and hypertension using OML and ROS has been demonstrated [4]. For the purpose of determining OML, some analytical methods have been published, including LC‐MS/MS [5, 6], HPLC [7–10], spectrophotometric [11–14], and spectrofluorimetric methods [15–18]. These methods are available for determining OML either in formulations or in biological samples.…”
Section: Introductionmentioning
confidence: 99%
“…Successful treatment of patients with dyslipidemia and hypertension using OML and ROS has been demonstrated [4]. For the purpose of determining OML, some analytical methods have been published, including LC‐MS/MS [5, 6], HPLC [7–10], spectrophotometric [11–14], and spectrofluorimetric methods [15–18]. These methods are available for determining OML either in formulations or in biological samples.…”
Section: Introductionmentioning
confidence: 99%
“…Por A estimação e os estudos de previsão estão relacionados às características do tráfego. Na literatura acadêmica foi possível verificar estudos relativos às principais características: a) velocidade e tempo de percurso (CHEN;CHIEN, 2001;GENTILI;MIRCHANDANI, 2018;HIRIOTAPPA et al, 2017;WANG;MESSMER, 2006) b) densidade (MUIIOZ et al, 2003;QIU et al, 2010;T. DARWISH;K.…”
Section: Estimação Do Estado Do Tráfego Ou Previsão De Tráfego?unclassified