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

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 the diagn...

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Detalles Bibliográficos
Autores principales:	Pinheiro, Franciele Cabral, Ligabue-Braun, Rodrigo, de Siqueira, Ana Cecília Menezes, Matuella, Camila, de Souza, Carolina Fischinger Moura, Monteiro, Fabíola Paoli, Kok, Fernando, Schwartz, Ida Vanessa Doederlein, Sperb-Ludwig, Fernanda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2021
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8127874/ https://www.ncbi.nlm.nih.gov/pubmed/33999094 http://dx.doi.org/10.1590/1678-4685-GMB-2020-0281

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