The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

Abstract Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inborn error of fructose metabolism caused by pathogenic variants in the FBP1 gene. As gluconeogenesis is affected, catabolic episodes can induce ketotic hypoglycemia in patients. FBP1 analysis is the most commonly used approach for...

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Bibliographic Details
Main Authors: Franciele Cabral Pinheiro, Rodrigo Ligabue-Braun, Ana Cecília Menezes de Siqueira, Camila Matuella, Carolina Fischinger Moura de Souza, Fabíola Paoli Monteiro, Fernando Kok, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2021-05-01
Series:Genetics and Molecular Biology
Subjects:
Inborn error of fructose metabolism
NGS
FBPase deficiency
computational analysis
in silico analysis
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000300110&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000300110&tlng=en

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