Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child

Fructose-1, 6-bisphosphatase 1 (FBP1) deficiency is an autosomal recessive disorder of gluconeogenesis resulting in severe and recurrent life-threatening episodes of hypoglycemia and lactic acidosis in infancy. We report a 16 month-old girl who presented with recurrent episodes of vomiting, rapid br...

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Detalles Bibliográficos
Autores principales: Sharma, AG, Kanwal, SK, Chhapola, V, Kumar, V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066631/
https://www.ncbi.nlm.nih.gov/pubmed/29992913
http://dx.doi.org/10.4103/jpgm.JPGM_216_17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066631/
https://www.ncbi.nlm.nih.gov/pubmed/29992913
http://dx.doi.org/10.4103/jpgm.JPGM_216_17

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