Endocrinology & Diabetes ResearchISSN: 2470-7570

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Sridhurga U Author

Subjects of specialization
Engineering

Affiliation
Anna university regional office tirunelveli, Francis Xavier Engineering College, Government College of Engineering

Biography

AJK College Arts and Science, Advanced Engineering Forum, Bharathiar University, CR Journals, Hindusthan College of Arts and Science, Mazharul uloom College of Arts and Science, Ministry of Human Resource Development, PSG College of Arts and Science


Publications

Research Article Subscription

A Novel Mutation in the GLUT2 Gene Case Report of Fanconi-Bickel Syndrome in a Female Indian Patient

Author(s):

Poovazhagi V*, Sridhurga U, Prabha S and Sujatha J

Abstract
A female infant born out of 3rd degree consanguineous parents presented at 1 year of age with polyuria, polydipsia and glycosuria for 6 months. History revealed motor developmental delay. Investigations showed fasting hypoglycemia, postprandial hyperglycemia, renal glycosuria, generalized aminoaciduria, and renal rickets. Genetic evaluation revealed a novel mutation in exon2 of SLC2A2 a T-to-G substitution (c56T>G) confirming the diagnosis of Fanconi Bickel syndrome (FBS).

... view moreĀ»

DOI: 10.4172/2327-4700.1000106

Abstract HTML



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