Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients

Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients

Background: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inborn error of gluconeogenesis. We reported the clinical findings and molecular genetic data in seven Malaysian patients with FBPase deficiency. Methods: All patients diagnosed with FBPase deficiency from 2010...

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Bibliographic Details
Main Authors: Lip Hen Moey, Nor Azimah Abdul Azize, Yusnita Yakob, Huey Yin Leong, Wee Teik Keng, Bee Chin Chen, Lock Hock Ngu
Format: Article
Language:English
Published: Elsevier 2018-08-01
Series:Pediatrics and Neonatology
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957216303783

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http://www.sciencedirect.com/science/article/pii/S1875957216303783

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