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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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| Materias: | |
| 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 |