Neurological aspects in hyperinsulinism-hyperammonaemia syndrome.
Kelly
Andrea
A
Division of Endocrinology/Diabetes, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Stanley
Charles A
CA
D001925:Brain Damage, Chronic / Q000235:genetics*; D002648:Child; D004044:Dietary Proteins / Q000009:adverse effects / Q000378:metabolism; D004789:Enzyme Activation / Q000235:genetics; D051272:Glucose Transporter Type 1 / Q000235:genetics; D005969:Glutamate Dehydrogenase / Q000235:genetics*; D006160:Guanosine Triphosphate / Q000502:physiology; D006801:Humans; D022124:Hyperammonemia / Q000235:genetics*; D006946:Hyperinsulinism / Q000235:genetics*; D007003:Hypoglycemia / Q000235:genetics*; D007930:Leucine / Q000009:adverse effects / Q000378:metabolism; D008099:Liver / Q000201:enzymology; D020125:Mutation, Missense / Q000235:genetics*; D009460:Neurologic Examination; D010179:Pancreas / Q000201:enzymology
D004044:Dietary Proteins; D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human; D006160:Guanosine Triphosphate; D005969:Glutamate Dehydrogenase; D007930:Leucine