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

• Main Authors: Lip Hen Moey (Author), Nor Azimah Abdul Azize (Author), Yusnita Yakob (Author), Huey Yin Leong (Author), Wee Teik Keng (Author), Bee Chin Chen (Author), Lock Hock Ngu (Author)
• 格式: 圖書
• 出版: Elsevier, 2018-08-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

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...