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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2018-01-01
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| Series: | Journal of Postgraduate Medicine |
| Subjects: | |
| Online Access: | http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2018;volume=64;issue=3;spage=180;epage=182;aulast=Sharma |