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P de Lonlay

Showing results (41-50 of 131) with videos related to

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The Journal of Pediatrics|September 15, 1999
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannoseP de Lonlay, M Cuer, S Vuillaumier-Barrot, et al.
Pediatrics|March 7, 2001
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemiaF Menni, P de Lonlay, C Sevin, et al.
Annales D'Endocrinologie|April 6, 1999
Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasiaJ C Fournet, V Verkarre, P De Lonlay, et al.
Molecular Genetics and Metabolism|November 21, 2007
Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancerA Boichard, L Venet, T Naas, et al.
Pediatric Radiology|August 21, 2001
Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancyV Chigot, P De Lonlay, M C Nassogne, et al.
American Journal of Human Genetics|May 12, 2001
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyP Bénit, D Chretien, N Kadhom, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|December 14, 2005
[Neonatal epilepsy and inborn errors of metabolism]N Bahi-Buisson, K Mention, P L Léger, et al.
Case Reports in Critical Care|January 15, 2020
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase DeficiencyA Dernoncourt, J Bouchereau, C Acquaviva-Bourdain, et al.
Journal of Medical Genetics|August 3, 2000
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patientsS Vuillaumier-Barrot, G Hetet, A Barnier, et al.
American Journal of Human Genetics|July 31, 1998
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiencyJ C von Kleist-Retzow, V Cormier-Daire, P de Lonlay, et al.
Pageof 14

Showing results (41-50 of 131) with videos related to

Sort By:
Pageof 14
The Journal of Pediatrics|September 15, 1999
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannoseP de Lonlay, M Cuer, S Vuillaumier-Barrot, et al.
Pediatrics|March 7, 2001
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemiaF Menni, P de Lonlay, C Sevin, et al.
Annales D'Endocrinologie|April 6, 1999
Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasiaJ C Fournet, V Verkarre, P De Lonlay, et al.
Molecular Genetics and Metabolism|November 21, 2007
Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancerA Boichard, L Venet, T Naas, et al.
Pediatric Radiology|August 21, 2001
Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancyV Chigot, P De Lonlay, M C Nassogne, et al.
American Journal of Human Genetics|May 12, 2001
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyP Bénit, D Chretien, N Kadhom, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|December 14, 2005
[Neonatal epilepsy and inborn errors of metabolism]N Bahi-Buisson, K Mention, P L Léger, et al.
Case Reports in Critical Care|January 15, 2020
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase DeficiencyA Dernoncourt, J Bouchereau, C Acquaviva-Bourdain, et al.
Journal of Medical Genetics|August 3, 2000
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patientsS Vuillaumier-Barrot, G Hetet, A Barnier, et al.
American Journal of Human Genetics|July 31, 1998
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiencyJ C von Kleist-Retzow, V Cormier-Daire, P de Lonlay, et al.
Pageof 14