Keyphrases
Hypoglycemia
100%
Glycogen Storage Disease
100%
Glycogen Synthase
100%
Liver Glycogen
100%
GYS2
85%
Glycogen Storage Disease Type 0
57%
Affected children
42%
Liver Biopsy
28%
Mutation Screening
28%
Glycogen Content
28%
Liver
14%
Early childhood
14%
Healthy Individuals
14%
Missense mutation
14%
Exon
14%
COS-7 Cells
14%
LOD Score
14%
Exon 5
14%
Rare Forms
14%
Single-strand Conformation Polymorphism
14%
Splicing mutation
14%
Premature Stop Codon
14%
Direct Sequencing
14%
Postprandial Hyperglycemia
14%
Donor Splice Site
14%
Blood Ketones
14%
Exon-intron Structure
14%
Fasting Hypoglycemia
14%
Hyperlactatemia
14%
Lactate Level
14%
Biochemistry, Genetics and Molecular Biology
Glycogen Liver Level
100%
Glycogen Synthase
100%
Exon
42%
Gene Linkage
28%
Stop Codon
14%
Splice Site Mutation
14%
Intron Structure
14%
Enzyme
14%
Normal Human
14%
Allele
14%
Missense Mutation
14%
Hyperglycemia
14%
Intron
14%
Infancy
14%
Alanine
14%
Deficiency
14%