Publications by authors named "Daniel Rabier"

Claim this Profile
S
Serum 2-hydroxyglutarate production in IDH1- and IDH2-mutated de novo acute myeloid leukemia: a study by the Acute Leukemia French Association group.
Maxime Janin, Elena Mylonas, Véronique Saada, Jean-Baptiste Micol, Aline Renneville, Daniel Rabier

J Clin Oncol· February 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Jean-Baptiste Arnoux, Valérie Barbier, Daniel Rabier

Orphanet J Rare Dis· September 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Anaïs Brassier, Chris Ottolenghi, Audrey Boutron, Anne-Marie Bertrand, Séverine Valmary-Degano, Daniel Rabier

Mol Genet Metab· May 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Portosystemic shunts: an underdiagnosed but treatable cause of neurological and psychiatric disorders.
Bertrand Degos, Laure Daelman, Gilles Huberfeld, Elodie Meppiel, Daniel Rabier

J Neurol Sci· October 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.
Vassili Valayannopoulos, Fanny Bajolle, Jean-Baptiste Arnoux, Sandrine Dubois, Nathalie Sannier, Daniel Rabier

Pediatr Res· December 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Chris Ottolenghi, Laurence Hubert, Yannick Allanore, Anais Brassier, Cécilia Altuzarra, Daniel Rabier

Hum Mutat· September 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mevalonate kinase deficiency: a survey of 50 patients.
Brigitte Bader-Meunier, Benoit Florkin, Jean Sibilia, Cécile Acquaviva, Eric Hachulla, Daniel Rabier

Pediatrics· July 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Validation of plasma branched chain amino acids as biomarkers in Huntington disease.
Fanny Mochel, Sandra Benaich, Daniel Rabier, Alexandra Durr

Arch Neurol· February 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Magalie Barth, Chris Ottolenghi, Laurence Hubert, Dominique Chrétien, Valérie Serre, Daniel Rabier

J Inherit Metab Dis· December 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Udo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, Vassili Valayannopoulos, Daniel Rabier

Biochim Biophys Acta· November 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Anne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, Niels Gregersen, Michèle Brivet, Daniel Rabier

Orphanet J Rare Dis· October 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease.
Fanny Mochel, Sandrine Duteil, Cécilia Marelli, Céline Jauffret, Agnès Barles, Daniel Rabier

Eur J Hum Genet· September 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
Vassili Valayannopoulos, Coralie Haudry, Valérie Serre, Magalie Barth, Nathalie Boddaert, Daniel Rabier

Mitochondrion· June 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Management of West syndrome in a patient with methylmalonic aciduria.
Philippe M Campeau, Vassili Valayannopoulos, Guy Touati, Nadia Bahi-Buisson, Nathalie Boddaert, Daniel Rabier

J Child Neurol· January 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cardiomyopathies in propionic aciduria are reversible after liver transplantation.
Stéphane Romano, Vassili Valayannopoulos, Guy Touati, Jean-Pierre Jais, Daniel Rabier

J Pediatr· January 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
Vassili Valayannopoulos, Stéphane Romano, Karine Mention, Anne Vassault, Daniel Rabier

Eur J Pediatr· March 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
François Feillet, Marc Merten, Shyue-Fang Battaglia-Hsu, Daniel Rabier, Keiko Kobayashi

J Hepatol· March 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Modified glutamine catabolism in macrophages of Ucp2 knock-out mice.
Tobias Nübel, Yalin Emre, Daniel Rabier, Bernadette Chadefaux, Daniel Ricquier

Biochim Biophys Acta· January 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
L-arginine metabolism in dog kidney and isolated nephron segments.
Olivier Levillain, Daniel Rabier, Bernard Duclos, Pierrette Gaudreau, Patrick Vinay

Metabolism· January 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Alexandra Afenjar, Marie-Laure Moutard, Diane Doummar, Agnés Guët, Daniel Rabier

Brain Dev· October 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.
Fanny Mochel, Perrine Charles, François Seguin, Julie Barritault, Christiane Coussieu, Daniel Rabier

PLoS One· July 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biomarkers identified in inborn errors for lysine, arginine, and ornithine.
Jean-Marie Saudubray, Daniel Rabier

J Nutr· June 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Allogeneic bone marrow transplantation in mevalonic aciduria.
Bénédicte Neven, Vassili Valayannopoulos, Pierre Quartier, Stéphane Blanche, Anne-Marie Prieur, Daniel Rabier

N Engl J Med· June 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.
Angels Garcia-Cazorla, Pascale De Lonlay, Pierre Rustin, Dominique Chretien, Guy Touati, Daniel Rabier

J Pediatr· September 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
Angels García-Cazorla, Daniel Rabier, Guy Touati, Bernadette Chadefaux-Vekemans, Cécile Marsac

Ann Neurol· January 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis