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)

Comparison of solution-based exome capture methods for next generation sequencing

Anna-Maija Sulonen, Pekka Ellonen, Henrikki Almusa et al. · Genome biology · 2011 · 269 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Medical aspects of ketone body metabolism.

Grant A. Mitchell, Sacha Kassovska‐Bratinova, Youssef Boukaftane et al. · PubMed · 1995 · 259 citations

Life Sciences, Biochemistry, Physiology +17

Assessment and management of hypoglycemia in children and adolescents with diabetes

William L. Clarke, Timothy W. Jones, Arleta Rewers et al. · Pediatric Diabetes · 2008 · 189 citations

Medicine, Endocrinology, Pediatrics +10

Glucose counterregulatory responses to hypoglycemia.

Jennifer Sprague, Ana María Arbeláez · PubMed · 2011 · 188 citations

Medicine, Neuroscience, Physiology +15

Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency

Barbara Burwinkel, John W. Scott, Christoph Bührer et al. · The American Journal of Human Genetics · 2005 · 153 citations · Full text

Medicine, Genetics, Molecular Biology +17