Jean-Marie Saudubray

Author

Hôpital Necker-Enfants Malades

Also Known As

Jean-Marie Saudubray

Publications

1.7K

Citations

H-Index

Concepts

All Affiliations

Hôpital Necker-Enfants Malades Hôpital des Enfants Inserm University of Miami Sorbonne Université

About

Jean-Marie Saudubray is an author at Hôpital Necker-Enfants Malades specializing in medicine, pathology, and health sciences.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	906
2	Health Sciences	4	4	596
3	Biochemistry	2	2	267
4	Clinical Nutrition	2	2	402
5	Public Health	1	1	136

Jean-Marie Saudubray

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
Neurologic Outcomes of 90 Neonates and Infants With Persistent Hyperinsulinemic Hypoglycemia Francesca Menni, Pascale de Lonlay, Caroline Sevin, PEDIATRICS	2001	344
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg, Pediatric Research NutritionMetabolic DisorderPediatric HematologyTreatment EfficacyHematology	2006	266
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy Fanny Mochel, Pascale Delonlay, Guy Touati, Molecular Genetics and Metabolism Metabolic SyndromeNutritionEnergy MetabolismPyruvate Carboxylase DeficiencyBiochemistry	2005	136
Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities France Demaugre, Jean‐Paul Bonnefont, Grant Mitchell, Pediatric Research HepatologyBiochemistryMuscular PresentationsLiver PhysiologyInherited Metabolic Disease	1988	131
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia Marie Coutelier, Cyril Goizet, Alexandra Dürr, Brain	2015	103
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy Valérie Cormier‐Daire, Jean‐Paul Bonnefont, Pierre Rustin, The Journal of Pediatrics Villous AtrophyGeneticsPathogenesisDna ReplicationPathology	1994	93
Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline Matthias R. Baumgartner, Daniel Rabier, Marie‐Cécile Nassogne, European Journal of Pediatrics Connective Tissue ManifestationsOcular DiseaseOphthalmologyδ1-Pyrroline-5-carboxylate Synthase DeficiencyReduced Ornithine	2004	88
An Analysis of the Association between Serum Citrulline and Acute Rejection among 26 Recipients of Intestinal Transplant Peter A. Pappas, Andreas G. Tzakis, Jeffrey J. Gaynor, American Journal of Transplantation Transplant RejectionIntestinal TransplantSerum CreatinineTransplantationIntestinal Transplantation	2004	71
Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome Agn�s R�tig, A. Rasore Quartino, Gian Luca Forni, The Journal of Pediatrics Widespread Multitissue DeletionsGenetic DisorderMedicineGeneticsPathology	1990	71
SERUM CITRULLINE AND REJECTION IN SMALL BOWEL TRANSPLANTATION: A PRELIMINARY REPORT Peter A. Pappas, Jean-Marie Saudubray, Andreas G. Tzakis, Transplantation	2001	69

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