Related references
Note: Only part of the references are listed.Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children
Yazeid Alhaidan et al.
SCIENTIFIC REPORTS (2020)
A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review
Junling Fu et al.
BMC MEDICAL GENETICS (2019)
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Priya S. Kishnani et al.
GENETICS IN MEDICINE (2019)
Inborn Errors of Metabolism with Hypoglycemia Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis
David A. Weinstein et al.
PEDIATRIC CLINICS OF NORTH AMERICA (2018)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children
Laurie M. Brown et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada
Anne Roscher et al.
MOLECULAR GENETICS AND METABOLISM (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Aggressive therapy improves cirrhosis in glycogen storage disease type IX
Laurie A. Tsilianidis et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Glycogen Storage Disease Type III diagnosis and management guidelines
Priya S. Kishnani et al.
GENETICS IN MEDICINE (2010)
Hearing loss in Pompe disease revisited: results from a study of 24 children
Carine I. van Capelle et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
CONTROLLED ATTENUATION PARAMETER (CAP): A NOVEL VCTE™ GUIDED ULTRASONIC ATTENUATION MEASUREMENT FOR THE EVALUATION OF HEPATIC STEATOSIS: PRELIMINARY STUDY AND VALIDATION IN A COHORT OF PATIENTS WITH CHRONIC LIVER DISEASE FROM VARIOUS CAUSES
Magali Sasso et al.
ULTRASOUND IN MEDICINE AND BIOLOGY (2010)
Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand
Hidde H. Huidekoper et al.
EUROPEAN JOURNAL OF PEDIATRICS (2008)
Glycogen storage disease type IX: High variability in clinical phenotype
Nicholas James Beauchamp et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Presenting features of idiopathic ketotic hypoglycemia
LP Daly et al.
JOURNAL OF EMERGENCY MEDICINE (2003)