Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction-Reference-Cited by-同舟云学术

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction

Published:2017-04 Issue:4 Volume:120 Page:337-341
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Vieira Päivi,Cameron Jessie,Rahikkala Elisa,Keski-Filppula Riikka,Zhang Lin-Hua,Santra Saikat,Matthews Allison,Myllynen Päivi,Nuutinen Matti,Moilanen Jukka S.,Rodenburg Richard J.,Rolfs Arndt,Uusimaa Johanna,van Karnebeek Clara D.M.

Funder

Canadian Institutes for Health Research

BC Children's Hospital Research Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism of pediatric population with lactic acidosis;Robinson;Pediatr. Res.,1980

2. Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency;Atkin;Pediatr. Res.,1979

3. Mitochondrial phosphoenolpyruvate carboxykinase deficiency;Clayton;Eur. J. Pediatr.,1986

4. Mitochondrial phosphoenolpyruvate carboxykinase deficiency;Leonard;Eur. J. Pediatr.,1991

5. Hepatic phosphoenolpyruvate carboxykinase (PEPCK) deficiency: a new cause of hypoglycemia in childhood;Fiser;Pediatr. Res.,1974

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study;American Journal of Case Reports;2024-03-14

2. Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families;Orphanet Journal of Rare Diseases;2023-11-03

3. Emerging roles of cytosolic phosphoenolpyruvate kinase 1 (PCK1) in cancer;Biochemistry and Biophysics Reports;2023-09

4. PCK1 activates oncogenic autophagy via down-regulation Serine phosphorylation of UBAP2L and antagonizes colorectal cancer growth;Cancer Cell International;2023-04-16

5. Trilobatin ameliorates HFD/STZ-induced glycolipid metabolism disorders through AMPK-mediated pathways;Journal of Functional Foods;2023-04