Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.

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2016 Sep 8 Others R Shah, S Rao, R Parikh, T Sophia, H Khalid - Indian pediatrics, 2016 - researchgate.net 96

Full Author : ['Shah, Ruchi', 'Rao, Sudha', 'Parikh, Ruchi', 'Sophia, Tahir', 'Khalid, Hussain']
Journal Title : Indian pediatrics
Chapter : Section7
Journal Year : 2016
Cited by : 3

BACKGROUND: Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare. CASE CHARACTERISTICS: 4.5-years-old boy presented with growth failure, hepatomegaly, rickets, fasting hypoglycemia..... Read More

Keywords : ['fanconi bickel syndrome', 'hypercalciuria due', 'glut mutation']
PubMed Link : https://www.researchgate.net/profile/Sophia-Tahir/publication/309147925_Fanconi_Bickel_Syndrome_with_Hypercalciuria_due_to_GLUT_2_Mutation/links/5b312ad64585150d23d059be/Fanconi-Bickel-Syndrome-with-Hypercalciuria-due-to-GLUT-2-Mutation.pdf
Google Scholar Link : https://scholar.google.com/scholar?cites=16829826934860665056&as_sdt=5,34&sciodt=0,34&hl=en&num=20

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Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.