Titre :
  • Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.
Auteur : Bahi-Buisson, Nadia ; Roze, Emmanuel ; Dionisi, Carlo ; Escande, Fabienne ; Valayannopoulos, Vassili ; Feillet, François ; Heinrichs, Claudine ; Chadefaux-Vekemans, Bernadette ; Dan, Bernard ; de Lonlay, Pascale
Informations sur la publication : Developmental medicine and child neurology, 50, 12, (page 945-949)
Statut de publication : Publié, 2008-12
Sujet CREF : Sciences bio-médicales et agricoles
Psychologie
Mots-clés MeSH : Adolescent
Adult
Alleles
Brain -- pathology
Brain Damage, Chronic -- diagnosis
Brain Damage, Chronic -- genetics
Child
Child, Preschool
DNA Mutational Analysis
Electroencephalography
Enzyme Activation -- genetics
Epilepsies, Myoclonic -- diagnosis
Epilepsies, Myoclonic -- genetics
Epilepsy, Absence -- diagnosis
Epilepsy, Absence -- genetics
Epilepsy, Generalized -- diagnosis
Epilepsy, Generalized -- genetics
Epilepsy, Tonic-Clonic -- diagnosis
Epilepsy, Tonic-Clonic -- genetics
Female
Genotype
Glutamate Dehydrogenase -- genetics
Guanosine Triphosphate -- blood
Guanosine Triphosphate -- physiology
Humans
Hyperammonemia -- diagnosis
Hyperammonemia -- genetics
Hyperinsulinism -- diagnosis
Hyperinsulinism -- genetics
Hypoglycemia -- diagnosis
Hypoglycemia -- genetics
Infant
Liver -- enzymology
Magnetic Resonance Imaging
Male
Mutation, Missense -- genetics
Neurologic Examination
Pancreas -- enzymology
Phenotype
Retrospective Studies
Young Adult
Note : Journal Article
SCOPUS: ar.j
FLWIN
Langue :
  • Anglais
Identificateurs : urn:issn:0012-1622 
info:doi/10.1111/j.1469-8749.2008.03114.x
info:pii/DMCN3114
info:pmid/19046187