Lethal COG6-CDG in neonatal patient with arachnodactyly, joint contractures, and skin manifestations: Founder mutation in the Southeastern European population?
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DOI: 10.1111/pde.14922
Abstract: Herein, we report a lethal case of the ultra-rare COG6-congenital disorder of glycosylation (CDG) presenting with skin manifestations (scaling and erosions) and joint contractures in a neonate of Albanian origin. The patient was homozygous for… read more here.
Keywords: patient; skin manifestations; joint contractures; southeastern european ... See more keywords
Affordability of cigarettes in ten Southeastern European countries between 2008 and 2019
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DOI: 10.1136/tc-2022-057716
Abstract: Background The empirical evidence shows that tobacco consumption is strongly associated with its affordability. The nominal growth in tobacco prices imposed by taxation should exceed or at least keep pace with nominal income growth, ensuring… read more here.
Keywords: consumption; 2008 2019; tobacco; affordability cigarettes ... See more keywords