Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3′ untranslated region of the aldolase B gene

Hereditary fructose intolerance, caused by mutations in the ALDOB gene, is an unusual cause of hypoglycemia. ALDOB encodes the enzyme aldolase B, responsible for the hydrolysis of fructose 1-phosphate in the liver. Here, we report the case of a 33-year-old female patient who consulted due to repetit...

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Detalles Bibliográficos
Autores principales: Morales-Alvarez, Martha Catalina, Ricardo-Silgado, Maria Laura, Lemus, Hernan Nicolas, González-Devia, Deyanira, Mendivil, Carlos O
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330728/
https://www.ncbi.nlm.nih.gov/pubmed/30675358
http://dx.doi.org/10.1177/2050313X18823098

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330728/
https://www.ncbi.nlm.nih.gov/pubmed/30675358
http://dx.doi.org/10.1177/2050313X18823098

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