Article
Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.
Pediatrics and neonatology - 1 Aug 2018
Moey Lip Hen, Abdul Azize Nor Azimah, Yakob Yusnita, Leong Huey Yin, Keng Wee Teik, Chen Bee Chin, Ngu Lock Hock
Abstract excerpt
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 to 2015 were included in this study. Their clinical and laboratory data were collected retrospectively. RESULTS:...
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