par Bahi-Buisson, Nadia;Roze, Emmanuel;Dionisi, Carlo;Escande, Fabienne;Valayannopoulos, Vassili;Feillet, François;Heinrichs, Claudine 
;Chadefaux-Vekemans, Bernadette;Dan, Bernard ;de Lonlay, Pascale
Référence Developmental medicine and child neurology, 50, 12, page (945-949)
Publication Publié, 2008-12
;Chadefaux-Vekemans, Bernadette;Dan, Bernard ;de Lonlay, PascaleRéférence Developmental medicine and child neurology, 50, 12, page (945-949)
Publication Publié, 2008-12
Article révisé par les pairs
| Titre: |
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| 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 | |
| MeSH keywords: | 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 générale: | 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:scp/56849124017 | |
| info:pmid/19046187 |
