Isolated and contiguous glycerol kinase gene disorders: A review

Keyphrases

• Gene Disorders 100%
• Diacylglycerol Kinase 100%
• Pyruvate Kinase Deficiency 100%
• Adrenal Hypoplasia Congenita 17%
• Metabolic Crisis 11%
• Duchenne muscular Dystrophy 11%
• Clinical Features 5%
• Early childhood 5%
• Physician Knowledge 5%
• Clinical Symptoms 5%
• Molecular Genetics 5%
• Life-threatening 5%
• Hypoglycemia 5%
• Missense mutation 5%
• Genetic Defects 5%
• Gluconeogenesis 5%
• Phenotypic Variation 5%
• Neonatal Period 5%
• X-linked Disorder 5%
• Splicing mutation 5%
• Complex Forms 5%
• Biochemical Phenotype 5%
• Algorithmic Approach 5%
• Pseudohypertriglyceridemia 5%
• Molecular Heterogeneity 5%
• Disease Knowledge 5%
• Biochemical Genetics 5%
• Genetic Investigation 5%
• Adrenal Dysfunction 5%
• Catabolic 5%
• Hyperketonemia 5%
• Nonsense mutation 5%
• Clinical Phenotype 5%
• Ketolysis 5%
• Clinical Genetics 5%
• Small Deletion 5%
• Clinical Variability 5%
• Contiguous Gene Syndrome 5%
• Asymptomatic Adults 5%
• Molecular Genetic Features 5%

Biochemistry, Genetics and Molecular Biology

• Glycerol Kinase Deficiency 100%
• Glycerol Kinase 100%
• Molecular Genetics 11%
• Genetics 5%
• Missense Mutation 5%
• Gluconeogenesis 5%
• Nonsense Mutation 5%
• Newborn Period 5%
• Contiguous Gene Syndrome 5%
• Splice Site Mutation 5%