Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings
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Title
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings
Authors
Keywords
-
Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2021-10-10
DOI
10.1002/jimd.12446
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Note: Only part of the references are listed.- Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death
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- GC–MS-based urinary organic acid profiling reveals multiple dysregulated metabolic pathways following experimental acute alcohol consumption
- (2018) Cindy Irwin et al. Scientific Reports
- Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction
- (2017) Päivi Vieira et al. MOLECULAR GENETICS AND METABOLISM
- How to use a controlled fast to investigate hypoglycaemia
- (2016) S Sreekantam et al. Archives of Disease in Childhood-Education and Practice Edition
- Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis
- (2016) Saikat Santra et al. MOLECULAR GENETICS AND METABOLISM
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
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- (2015) Emily D. Montal et al. MOLECULAR CELL
- Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations
- (2014) James J. Pitt et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
- (2014) David R. Adams et al. MOLECULAR GENETICS AND METABOLISM
- Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
- (2014) Elaine T. Lim et al. PLoS Genetics
- Clinical and biochemical heterogeneity associated with fumarase deficiency
- (2011) Chris Ottolenghi et al. HUMAN MUTATION
- Metabolic Profiles in Children During Fasting
- (2011) M. R. van Veen et al. PEDIATRICS
- Acute nutrition management in the prevention of metabolic illness: A practical approach with glucose polymers
- (2009) Johan L.K. Van Hove et al. MOLECULAR GENETICS AND METABOLISM
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