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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

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P de Lonlay

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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|September 11, 2002

[Hematologic manifestations of inborn errors of metabolism]P de Lonlay, O Fenneteau, G Touati, et al.

Journal of Medical Genetics|May 6, 2014

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlationsM Bricout, D Grévent, A S Lebre, et al.

The Journal of Clinical Endocrinology and Metabolism|April 12, 2001

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenaseC MacMullen, J Fang, B Y Hsu, et al.

American Journal of Human Genetics|June 19, 1998

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentationJ Jaeken, G Matthijs, J M Saudubray, et al.

Journal of Medical Genetics|November 5, 2002

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type IbS Vuillaumier-Barrot, C Le Bizec, P de Lonlay, et al.

Neuropediatrics|May 1, 1999

Respiratory chain deficiency presenting as recurrent myoglobinuria in childhoodP de Lonlay-Debeney, P Edery, V Cormier-Daire, et al.

Neuropediatrics|April 12, 2003

Neurological presentation in pediatric patients with congenital disorders of glycosylation type IaE Miossec-Chauvet, Y Mikaeloff, D Heron, et al.

American Journal of Medical Genetics|August 17, 1999

Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.

Diabetologia|February 25, 2009

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunctionA Bonnefond, N Bouatia-Naji, A Simon, et al.

Clinical Genetics|May 13, 2014

Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinismC Saint-Martin, Q Zhou, G M Martin, et al.

Pageof 14

Search research articles

Showing results (51-60 of 131) with videos related to

Sort By:

Pageof 14

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|September 11, 2002

[Hematologic manifestations of inborn errors of metabolism]P de Lonlay, O Fenneteau, G Touati, et al.

Journal of Medical Genetics|May 6, 2014

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlationsM Bricout, D Grévent, A S Lebre, et al.

The Journal of Clinical Endocrinology and Metabolism|April 12, 2001

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenaseC MacMullen, J Fang, B Y Hsu, et al.

American Journal of Human Genetics|June 19, 1998

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentationJ Jaeken, G Matthijs, J M Saudubray, et al.

Journal of Medical Genetics|November 5, 2002

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type IbS Vuillaumier-Barrot, C Le Bizec, P de Lonlay, et al.

Neuropediatrics|May 1, 1999

Respiratory chain deficiency presenting as recurrent myoglobinuria in childhoodP de Lonlay-Debeney, P Edery, V Cormier-Daire, et al.

Neuropediatrics|April 12, 2003

Neurological presentation in pediatric patients with congenital disorders of glycosylation type IaE Miossec-Chauvet, Y Mikaeloff, D Heron, et al.

American Journal of Medical Genetics|August 17, 1999

Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.

Diabetologia|February 25, 2009

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunctionA Bonnefond, N Bouatia-Naji, A Simon, et al.

Clinical Genetics|May 13, 2014

Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinismC Saint-Martin, Q Zhou, G M Martin, et al.

Pageof 14