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Daniel Rabier

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Anaïs Brassier; Jean-Paul Cervoni; Dominique Chrétien; Yves de Keyzer; Vincent Di Martino; Laurence Hubert; Florence Lacaille; Chris Ottolenghi; Daniel Rabier; Séverine Valmary-Degano; Jean-Baptiste Arnoux; Anne-Marie Bertrand; Audrey Boutron; Pascale de Lonlay
Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Brigitte Bader-Meunier; Laurence Cuisset; Claire Michèle Farber; Michel Fischbach; Benoit Florkin; Gilles Grateau; Eric Hachulla; Véronique Hentgen; Patrick Jego; Cécile Laroche; Thierry Lequerré; Alexis Mathian; Bénédicte Neven; Isabelle Pellier; Anne-Marie Prieur; Pierre Quartier; Daniel Rabier; Olivier Richer; Jean Sibilia; Isabelle Touitou; Cécile Acquaviva
Mevalonate kinase deficiency: a survey of 50 patients.
Fanny Mochel; Sandra Benaich; Daniel Rabier; Alexandra Durr
Validation of plasma branched chain amino acids as biomarkers in Huntington disease.

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All Publications

2013: Anaïs Brassier; Jean-Paul Cervoni; Dominique Chrétien; Yves de Keyzer; Vincent Di Martino; Laurence Hubert; Florence Lacaille; Chris Ottolenghi; Daniel Rabier; Séverine Valmary-Degano; Jean-Baptiste Arnoux; Anne-Marie Bertrand; Audrey Boutron; Pascale de Lonlay
Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Molecular genetics and metabolism 2013;109(1):28-32.
2011: Brigitte Bader-Meunier; Laurence Cuisset; Claire Michèle Farber; Michel Fischbach; Benoit Florkin; Gilles Grateau; Eric Hachulla; Véronique Hentgen; Patrick Jego; Cécile Laroche; Thierry Lequerré; Alexis Mathian; Bénédicte Neven; Isabelle Pellier; Anne-Marie Prieur; Pierre Quartier; Daniel Rabier; Olivier Richer; Jean Sibilia; Isabelle Touitou; Cécile Acquaviva
Mevalonate kinase deficiency: a survey of 50 patients.
Pediatrics 2011;128(1):e152-9.
2011: Fanny Mochel; Sandra Benaich; Daniel Rabier; Alexandra Durr
Validation of plasma branched chain amino acids as biomarkers in Huntington disease.
Archives of neurology 2011;68(2):265-7.
2010: Udo F H Engelke; Fokje S M Zijlstra; Fanny Mochel; Vassili Valayannopoulos; Daniel Rabier; Leo A J Kluijtmans; András Perl; Nanda M Verhoeven-Duif; Pascale de Lonlay; Mirjam M C Wamelink; Cornelis Jakobs; Eva Morava; Ron A Wevers
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Biochimica et biophysica acta 2010;1802(11):1028-35.
2010: Fanny Mochel; Sandrine Duteil; Cécilia Marelli; Céline Jauffret; Agnès Barles; Janette Holm; Lawrence Sweetman; Jean-François Benoist; Daniel Rabier; Pierre G Carlier; Alexandra Durr
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease.
European journal of human genetics : EJHG 2010;18(9):1057-60.
2010: Vassili Valayannopoulos; Coralie Haudry; Valérie Serre; Magalie Barth; Nathalie Boddaert; Jean-Baptiste Arnoux; Valérie Cormier-Daire; Marlène Rio; Daniel Rabier; Anne Vassault; Arnold Munnich; Jean-Paul Bonnefont; Pascale de Lonlay; Agnès Rötig; Anne-Sophie Lebre
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
Mitochondrion 2010;10(4):335-41.
2010: C Ottolenghi; N Abermil; A Lescoat; Joelle Aupetit; O Beaugendre; Nicole Morichon-Delvallez; D Ricquier; Bernadette Chadefaux-Vekemans; Daniel Rabier
Gestational age-related reference values for amniotic fluid organic acids.
Prenatal diagnosis 2010;30(1):43-8.
2010: Stéphane Romano; Vassili Valayannopoulos; Guy Touati; Jean-Philippe jais; Daniel Rabier; Yves de Keyzer; Damien Bonnet; Pascale de Lonlay
Cardiomyopathies in propionic aciduria are reversible after liver transplantation.
The Journal of pediatrics 2010;156(1):128-34.
2010: Philippe Campeau; Vassili Valayannopoulos; Guy Touati; Nadia Bahi-Buisson; Nathalie Boddaert; Perrine Plouin; Daniel Rabier; Jean-François Benoist; Olivier Dulac; Pascale de Lonlay; Isabelle Desguerre
Management of West syndrome in a patient with methylmalonic aciduria.
Journal of child neurology 2010;25(1):94-7.
2009: Vassili Valayannopoulos; Laurence Hubert; J F Benoist; S Romano; J B Arnoux; Dominique Chrétien; Josseline Kaplan; F Fakhouri; Daniel Rabier; Agnès Rötig; A S Lebre; Arnold Munnich; Yves de Keyzer; Pascale de Lonlay
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
Journal of inherited metabolic disease 2009;32(2):159-62.
2008: François Feillet; Marc Merten; Shyue-Fang Battaglia-Hsu; Daniel Rabier; Keiko Kobayashi; Jean Straczek; Michèle Brivet; Elisabeth Favre; Jean-Louis Guéant
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
Journal of hepatology 2008;48(3):517-22.
2008: Vassili Valayannopoulos; S Romano; Karine Mention; Anne Vassault; Daniel Rabier; Michel Polak; Jean-Jacques Robert; Yves de Keyzer; Pascale de Lonlay
What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
European journal of pediatrics 2008;167(3):257-65.
2008: OLIVIER LEVILLAIN; Daniel Rabier; Bernard Duclos; Pierrette Gaudreau; Patrick Vinay
L-arginine metabolism in dog kidney and isolated nephron segments.
Metabolism: clinical and experimental 2008;57(1):9-23.
2008: Tobias Nübel; Yalin Emre; Daniel Rabier; Bernadette Chadefaux; Daniel Ricquier; Frederic Bouillaud
Modified glutamine catabolism in macrophages of Ucp2 knock-out mice.
Biochimica et biophysica acta 2008;1777(1):48-54.
2007: Alexandra Afenjar; Marie-Laure Moutard; Diane Doummar; Agnés Guët; Daniel Rabier; Anne-Isabelle Vermersch; Cyril Mignot; Lydie Burglen; Delphine Heron; Elizabeth Thioulouse; Thierry Billette de Villemeur; Dominique Campion; Diana Rodriguez
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Brain & development 2007;29(9):547-52.
2007: Bénédicte Neven; Vassili Valayannopoulos; Pierre Quartier; Stéphane Blanche; Anne-Marie Prieur; Marianne Debré; Marie-Odile Rolland; Daniel Rabier; Laurence Cuisset; Marina Cavazzana-Calvo; Pascale de Lonlay; Alain Fischer
Allogeneic bone marrow transplantation in mevalonic aciduria.
The New England journal of medicine 2007;356(26):2700-3.
2007: Jean-Marie Saudubray; Daniel Rabier
Biomarkers identified in inborn errors for lysine, arginine, and ornithine.
The Journal of nutrition 2007;137(6 Suppl 2):1669S-1672S.
2007: Fanny Mochel; Perrine Charles; François Seguin; Julie Barritault; Christiane Coussieu; Laurence Perin; Yves Le Bouc; Christiane Gervais; Guislaine Carcelain; Anne Vassault; JOSUE FEINGOLD; Daniel Rabier; Alexandra Durr
Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.
PloS one 2007;2(7):e647.
2006: Angels Garcia-Cazorla; Pascale de Lonlay; Pierre Rustin; Dominique Chretien; Guy Touati; Daniel Rabier; Abdelhamid Slama; Jean-Marie Saudubray
Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.
The Journal of pediatrics 2006;149(3):401-405.
2006: Bernadette Chadefaux-Vekemans; Daniel Rabier; N Cadoudal; A Lescoat; Allel Chabli; Joelle Aupetit; Y Dumez; J F Oury
Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience.
Prenatal diagnosis 2006;26(9):814-8.
2006: Guy Touati; Vassili Valayannopoulos; Karine Mention; Pascale de Lonlay; Philippe Andre Jouvet; E Depondt; M Assoun; J C Souberbielle; Daniel Rabier; Hélène Ogier de Baulny; Jean-Marie Saudubray
Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.
Journal of inherited metabolic disease 2006;29(2-3):288-98.
2006: Fanny Mochel; A-G Grébille; alexandra benachi; Jelena Martinovic; F Razavi; Daniel Rabier; Isabelle Simon; Nathalie Boddaert; Francis Brunelle; Pascale Sonigo
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.
AJNR. American journal of neuroradiology 2006;27(2):333-6.
2006: Angels García-Cazorla; Daniel Rabier; Guy Touati; Bernadette Chadefaux-Vekemans; Cécile Marsac; Pascale de Lonlay; Jean-Marie Saudubray
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
Annals of neurology 2006;59(1):121-7.
2005: Jean-Jacques Briere; Judith Favier; Paule Bénit; Vincent El Ghouzzi; Annalisa Lorenzato; Daniel Rabier; Maria Flavia Di Renzo; Anne-Paule Gimenez-Roqueplo; Pierre Rustin
Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.
Human molecular genetics 2005;14(21):3263-9.
2005: Philippe Andre Jouvet; Philippe Hubert; Jean-Marie Saudubray; Daniel Rabier; Nguyen K Man
Kinetic modeling of plasma leucine levels during continuous venovenous extracorporeal removal therapy in neonates with maple syrup urine disease.
Pediatric research 2005;58(2):278-82.
2005: Fanny Mochel; Abdelhamid Slama; Guy Touati; Isabelle Desguerre; Irina Giurgea; Daniel Rabier; Michèle Brivet; Pierre Rustin; Jean-Marie Saudubray; Pascale DeLonlay
Respiratory chain defects may present only with hypoglycemia.
The Journal of clinical endocrinology and metabolism 2005;90(6):3780-5.
2005: Isabelle Arnulf; Eric Konofal; K Michael Gibson; Daniel Rabier; Pierre Beauvais; Jean-Philippe Derenne; Anne Philippe
Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep.
Sleep 2005;28(4):418-24.
2005: Fanny Mochel; Pascale DeLonlay; Guy Touati; Henri Brunengraber; Renée P Kinman; Daniel Rabier; Charles R Roe; Jean-Marie Saudubray
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.
Molecular genetics and metabolism 2005;84(4):305-12.
2005: H G M Oude Luttikhuis; Guy Touati; Daniel Rabier; M Williams; C Jakobs; Jean-Marie Saudubray
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.
Journal of inherited metabolic disease 2005;28(6):1136-8.
2005: Hélène Ogier de Baulny; Jean-François Benoist; Odile Rigal; Guy Touati; Daniel Rabier; Jean-Marie Saudubray
Methylmalonic and propionic acidaemias: management and outcome.
Journal of inherited metabolic disease 2005;28(3):415-23.
2005: Marie-Cécile Nassogne; B Héron; Guy Touati; Daniel Rabier; J M Saudubray
Urea cycle defects: management and outcome.
Journal of inherited metabolic disease 2005;28(3):407-14.
2005: Matthias R Baumgartner; Daniel Rabier; Marie-Cécile Nassogne; Jean-Louis Dufier; Jean-Paul Padovani; Pierre Kamoun; David Valle; Jean-Marie Saudubray
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
European journal of pediatrics 2005;164(1):31-6.
2004: Anne Philippe; J Deron; David Geneviève; Pascale de Lonlay; K M Gibson; Daniel Rabier; Arnold Munnich
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).
Developmental medicine and child neurology 2004;46(8):564-8.
2004: Antonella Peduto; Matthias R Baumgartner; Nanda M Verhoeven; Daniel Rabier; Marco Spada; Marie-Cécile Nassogne; Bwee-Tien T Poll-The; Giovanni Bonetti; Cornelis Jakobs; Jean-Marie Saudubray
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.
Molecular genetics and metabolism 2004;82(3):224-30.
2004: Peter A Pappas; Andreas G Tzakis; Jeffrey J Gaynor; Manuel R Carreno; Phillip Ruiz; Frans Huijing; Gary Kleiner; Daniel Rabier; Tomoaki Kato; David M Levi; Seigo Nishida; Barry Gelman; John F Thompson; Naveen Mittal; Jean-Marie Saudubray
An analysis of the association between serum citrulline and acute rejection among 26 recipients of intestinal transplant.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2004;4(7):1124-32.
2004: Peter A Pappas; Andreas G Tzakis; Jean-Marie Saudubray; Jeffrey J Gaynor; Manuel R Carreno; Frans Huijing; Gary Kleiner; Daniel Rabier; Tomoaki Kato; David M Levi; Seigo Nishida; Barry Gelman; John F Thompson; Naveen Mittal; Phillip Ruiz
Trends in serum citrulline and acute rejection among recipients of small bowel transplants.
Transplantation proceedings 2004;36(2):345-7.
2002: Pascale de Lonlay; O Fenneteau; Guy Touati; Cyril Mignot; Thierry Billette de Villemeur; Daniel Rabier; S Blanche; Hélène Ogier de Baulny; Jean-Marie Saudubray
[Hematologic manifestations of inborn errors of metabolism].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2002;9(8):822-35.
2002: Bernadette Chadefaux-Vekemans; Daniel Rabier; Allel Chabli; A Blanc; Joelle Aupetit; J Bardet; Pierre Kamoun
Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid.
Prenatal diagnosis 2002;22(6):456-8.
2002: Peter A Pappas; Jean-Marie Saudubray; Andreas G Tzakis; Daniel Rabier; Manuel R Carreno; Orlando Gomez-Marin; Frans Huijing; Barry Gelman; David M Levi; Jose R Nery; Tomoaki Kato; Naveen Mittal; Seigo Nishida; John F. Thompson; Phillip Ruiz
Serum citrulline as a marker of acute cellular rejection for intestinal transplantation.
Transplantation proceedings 2002;34(3):915-7.
2002: Pierre Kamoun; Daniel Rabier; Jean-Marie Saudubray
A risk factor for chronic mild hyperammonaemia.
European journal of pediatrics 2002;161(4):221.
2002: Pierre Kamoun; V Richard; Daniel Rabier; J M Saudubray
Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria.
Journal of inherited metabolic disease 2002;25(1):1-6.
2002: M H Odievre; Caroline Sevin; J Laurent; J P Laboureau; Daniel Rabier; Michèle Brivet; C Roe; R J A Wanders; Jean-Marie Saudubray
Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis.
Acta paediatrica (Oslo, Norway : 1992) 2002;91(6):719-22.
2001: Philippe Andre Jouvet; M Jugie; Daniel Rabier; J Desgrès; Philippe Hubert; Jean-Marie Saudubray; Nguyen K Man
Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease.
Intensive care medicine 2001;27(11):1798-806.
2001: Peter A Pappas; Jean-Marie Saudubray; Andreas G Tzakis; Daniel Rabier; Manuel R Carreno; Orlando Gomez-Marin; Frans Huijing; Barry Gelman; David M Levi; Jose R Nery; Tomoaki Kato; Naveen Mittal; Seigo Nishida; John F. Thompson; Phillip Ruiz
Serum citrulline and rejection in small bowel transplantation: a preliminary report.
Transplantation 2001;72(7):1212-6.
2001: Pascale de Lonlay; Chantal Benelli; Françoise Fouque; A Ganguly; Bernard Aral; Carlo Dionisi Vici; Guy Touati; C Heinrichs; Daniel Rabier; Pierre Kamoun; Jean-Jacques Robert; Charles Stanley; Jean-Marie Saudubray
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.
Pediatric research 2001;50(3):353-7.
2000: Matthias R Baumgartner; HU CHIEN-AN; Shlomo Almashanu; Gary Steel; Cassandra Obie; Bernard Aral; Daniel Rabier; Pierre Kamoun; Jean-Marie Saudubray; David Valle
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
Human molecular genetics 2000;9(19):2853-8.
2000: Jean-Marie Saudubray; Pascale de Lonlay; Guy Touati; Delphine Martin; Marie-Cécile Nassogne; P Castelnau; Caroline Sevin; C Laborde; C Baussan; Michèle Brivet; Anne Vassault; Daniel Rabier; Jean-Paul Bonnefont; Pierre Kamoun
Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.
Journal of inherited metabolic disease 2000;23(3):197-214.
2000: Laure Thuillier; Caroline Sevin; France Demaugre; Michèle Brivet; Daniel Rabier; Véronique Droin; Joelle Aupetit; N Abadi; Pierre Kamoun; Jean-Marie Saudubray; Jean-Paul Bonnefont
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.
Neuromuscular disorders : NMD 2000;10(3):200-5.
2000: Guy Touati; E Rusthoven; E Depondt; C Dorche; M Duran; B Heron; Daniel Rabier; M Russo; Jean-Marie Saudubray
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.
Journal of inherited metabolic disease 2000;23(1):45-53.
1999: Jean-Marie Saudubray; Guy Touati; Pascale DeLonlay; Philippe Andre Jouvet; J Schlenzig; C Narcy; J Laurent; Daniel Rabier; Pierre Kamoun; Dominique M. Jan; Yann Revillon
Liver transplantation in propionic acidaemia.
European journal of pediatrics 1999;158 Suppl 2():S65-9.
1999: Jean-Marie Saudubray; Guy Touati; Pascale DeLonlay; Philippe Andre Jouvet; C Narcy; J Laurent; Daniel Rabier; Pierre Kamoun; Dominique M. Jan; Yann Revillon
Liver transplantation in urea cycle disorders.
European journal of pediatrics 1999;158 Suppl 2():S55-9.
1999: Damien Bonnet; D Martin; Elisabeth Villain; Philippe Andre Jouvet; Daniel Rabier; Michèle Brivet; Jean-Marie Saudubray
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.
Circulation 1999;100(22):2248-53.
1999: Jeanne Amiel; Pascale de Lonlay; C Francannet; A Picard; H Bruel; Daniel Rabier; Martine Le Merrer; Nanda M Verhoeven; C Jakobs; Stanislas LYONNET; Arnold Munnich
Facial anomalies in D-2-hydroxyglutaric aciduria.
American journal of medical genetics 1999;86(2):124-9.
1999: Jean-Marie Saudubray; Delphine Martin; Pascale de Lonlay; Guy Touati; F Poggi-Travert; D Bonnet; Philippe Andre Jouvet; M Boutron; Abdelhamid Slama; Christine Vianey-Saban; Jean-Paul Bonnefont; Daniel Rabier; Pierre Kamoun; Michèle Brivet
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Journal of inherited metabolic disease 1999;22(4):488-502.
1999: Michèle Brivet; Audrey Boutron; Abdelhamid Slama; C Costa; Laure Thuillier; France Demaugre; Daniel Rabier; Jean-Marie Saudubray; Jean-Paul Bonnefont
Defects in activation and transport of fatty acids.
Journal of inherited metabolic disease 1999;22(4):428-41.
1999: Christine Bodemer; Agnès Rötig; Pierre Rustin; V Cormier; Patrick Niaudet; Jean-Marie Saudubray; Daniel Rabier; Arnold Munnich; Yves de Prost
Hair and skin disorders as signs of mitochondrial disease.
Pediatrics 1999;103(2):428-33.
1999: B Parfait; Pascale de Lonlay; Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Dominique Chrétien; Agnès Rötig; Daniel Rabier; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
European journal of pediatrics 1999;158(1):55-8.
1998: MR Baumgartner; Bwee Tien Poll-The; Nanda M Verhoeven; C Jakobs; Marc Espeel; Frank Roels; Daniel Rabier; T Levade; M O Rolland; M Martinez; R J A Wanders; Jean-Marie Saudubray
Clinical approach to inherited peroxisomal disorders: a series of 27 patients.
Annals of neurology 1998;44(5):720-30.
1998: MR Baumgartner; Nanda M Verhoeven; C Jakobs; Frank Roels; Marc Espeel; M Martinez; Daniel Rabier; R J A Wanders; Jean-Marie Saudubray
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease.
Neurology 1998;51(5):1427-32.
1998: Pierre Kamoun; Daniel Rabier; J M Saudubray
Muscular origin of hyperammonaemia.
European journal of pediatrics 1998;157(10):868.
1998: Bing-zhi Yang; Jia-huan Ding; T Dewese; D Roe; G He; J Wilkinson; D W Day; France Demaugre; Daniel Rabier; Michèle Brivet; Charles R Roe
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
Molecular genetics and metabolism 1998;64(4):229-36.
1998: Daniel Rabier; C Diry; A Rotig; Pierre Rustin; B Heron; J Bardet; P Parvy; Gérard Ponsot; Cécile Marsac; Jean-Marie Saudubray; Arnold Munnich; Pierre Kamoun
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Journal of inherited metabolic disease 1998;21(3):216-9.
1997: C Mircher; A Salabelle; M A Peeters; Daniel Rabier; P Parvy; Pierre Kamoun; J Lejeune
[Variation of amino acids in relation to age in Down syndrome subjects].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1997;4(11):1093-9.
1997: Philippe Andre Jouvet; F Poggi; Daniel Rabier; Jean-Luc Michel; Philippe Hubert; M Sposito; Jean-Marie Saudubray; Nguyen K Man
Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease.
Journal of inherited metabolic disease 1997;20(4):463-72.
1997: B François; Virginie Colomb; Jean-Paul Bonnefont; Olivier Goulet; M Benhariz; Anne Vassault; Daniel Rabier; Claude Ricour
Tolerance to starvation in children on long-term total parenteral nutrition.
Clinical nutrition (Edinburgh, Scotland) 1997;16(3):113-7.
1997: K Michael Gibson; E Christensen; Cornelis Jakobs; Brian Fowler; M A Clarke; G Hammersen; K Raab; J Kobori; A Moosa; B Vollmer; E Rossier; A K Iafolla; Dietrich Matern; O F Brouwer; JANICE FINKELSTEIN; F Aksu; H P Weber; J A Bakkeren; F J Gabreels; D Bluestone; T F Barron; P Beauvais; Daniel Rabier; C Santos; Willy Lehnert
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
Pediatrics 1997;99(4):567-74.
1996: Daniel Rabier; Bernadette Chadefaux-Vekemans; J F Oury; Joelle Aupetit; J Bardet; M Gasquet; E Merhand; P Parvy; Pierre Kamoun
Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies.
Prenatal diagnosis 1996;16(7):623-8.
1996: S B van der Meer; F Poggi; Marco Spada; Jean-Paul Bonnefont; H Ogier; Philippe Hubert; E Depondt; D Rapoport; Daniel Rabier; C Charpentier; P Parvy; J Bardet; Pierre Kamoun; Jean-Marie Saudubray
Clinical outcome and long-term management of 17 patients with propionic acidaemia.
European journal of pediatrics 1996;155(3):205-10.
1996: B Ségues; P S Veber; Daniel Rabier; Patrick Calvas; Jean-Marie Saudubray; B Gilbert-Dussardier; Jean-Paul Bonnefont; Arnold Munnich
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
Human mutation 1996;8(4):373-4.
1996: F Poggi-Travert; D Martin; T Billette de Villemeur; Jean-Paul Bonnefont; A Vassault; Daniel Rabier; C Charpentier; Pierre Kamoun; Arnold Munnich; Jean-Marie Saudubray
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.
Journal of inherited metabolic disease 1996;19(4):478-88.
1996: B Gilbert-Dussardier; B Segues; Jean-Michel Rozet; Daniel Rabier; Patrick Calvas; L de Lumley; J P Bonnefond; Arnold Munnich
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Human mutation 1996;8(1):74-6.
1995: P Parvy; J Bardet; Bernadette Chadefaux-Vekemans; Daniel Rabier; M Gasquet; Joelle Aupetit; Pierre Kamoun
Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria.
Clinical chemistry 1995;41(11):1663-4.
1995: J S Schlenzig; C Charpentier; Daniel Rabier; Pierre Kamoun; A C Sewell; J P Harpey
L-carnitine: a way to decrease cellular toxicity of ifosfamide?
European journal of pediatrics 1995;154(8):686-7.
1995: B Segues; Jean-Michel Rozet; B Gilbert; P Saugier-Veber; Daniel Rabier; J M Saudubray; M Carré; F P Rouleau; A Menget; J M Bonardi
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
Prenatal diagnosis 1995;15(8):757-61.
1995: Dominique M. Jan; J Laurent; Florence Lacaille; Philippe Andre Jouvet; F Poggi; Daniel Rabier; A Beringer; C Flandin-Blety; P Niaudet; Philippe Hubert
Liver transplantation in children with inherited metabolic disorders.
Transplantation proceedings 1995;27(2):1706-7.
1995: P Parvy; J Bardet; M Gasquet; Daniel Rabier; Pierre Kamoun
Stability of free amino acids in sulfosalicylic filtrates.
Clinical chemistry 1995;41(3):465-6.
1995: P Parvy; J Bardet; Daniel Rabier; Pierre Kamoun
A scheme for the interpretation of primary and secondary disturbances of plasma and urinary amino acid profiles. A possible way to an expert system.
Clinica chimica acta; international journal of clinical chemistry 1995;235(1):1-10.
1995: Daniel Rabier; J Bardet; P Parvy; F Poggi; Michèle Brivet; Jean-Marie Saudubray; Pierre Kamoun
Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?
Journal of inherited metabolic disease 1995;18(2):257-60.
1995: J S Schlenzig; F Poggi-Travert; J Laurent; Daniel Rabier; Dominique M. Jan; U Wendel; A C Sewell; Yann Revillon; Pierre Kamoun; Jean-Marie Saudubray
Liver transplantation in two cases of propionic acidaemia.
Journal of inherited metabolic disease 1995;18(4):448-61.
1994: S B van der Meer; F Poggi; Marco Spada; Jean-Paul Bonnefont; H Ogier; Philippe Hubert; E Depondt; D Rapoport; Daniel Rabier; C Charpentier
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.
The Journal of pediatrics 1994;125(6 Pt 1):903-8.
1994: J Amiel; V Gagey; Daniel Rabier; C Dorche; J P Bonnefont; J L Dufier; Jean-Marie Saudubray; J Rey; A Munnich
[Sulfite oxidase deficiency presenting as Leigh syndrome].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1994;1(11):1023-7.
1994: F Poggi-Travert; B Héron; T Billette de Villemeur; M Spada; Philippe Andre Jouvet; C Charpentier; Daniel Rabier; Pierre Kamoun; Jean-Marie Saudubray
[Diagnosis of metabolic coma in children].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1994;1(9):843-51.
1994: Marco Spada; O Guardamagna; Daniel Rabier; S B van der Meer; P Parvy; J Bardet; Alberto Ponzone; Jean-Marie Saudubray
Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.
The Journal of pediatrics 1994;125(2):249-51.
1994: J C Netter; G Cossarizza; C Narcy; Philippe Hubert; H Ogier; Yann Revillon; Daniel Rabier; Jean-Marie Saudubray
[Mid-term outcome of 2 cases with maple syrup urine disease: role of liver transplantation in the treatment].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1994;1(8):730-4.
1994: F Poggi; Daniel Rabier; A Vassault; C Charpentier; Pierre Kamoun; Jean-Marie Saudubray
[Protocol of metabolic investigations in hereditary metabolic diseases].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1994;1(7):667-73.
1994: B Gilbert-Dussardier; Daniel Rabier; S Strautnieks; B Segues; Jean-Paul Bonnefont; Arnold Munnich
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
Human molecular genetics 1994;3(5):831-2.
1994: Dominique M. Jan; F Poggi; J Laurent; Daniel Rabier; Philippe Andre Jouvet; Florence Lacaille; A Beringer; Philippe Hubert; Yann Revillon; Jean-Marie Saudubray
Liver transplantation: new indications in metabolic disorders?
Transplantation proceedings 1994;26(1):189-90.
1994: Dominique M. Jan; F Poggi; Philippe Andre Jouvet; Daniel Rabier; J Laurent; A Beringer; Philippe Hubert; Jean-Marie Saudubray; Yann Revillon
Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases.
Transplantation proceedings 1994;26(1):188.
1994: Pierre Kamoun; P Parvy; Daniel Rabier; J Bardet; T Billette de Villemeur; Jean-Marie Saudubray
Dicarboxylic aminoaciduria.
Journal of inherited metabolic disease 1994;17(6):758.
1993: P Parvy; J Bardet; Daniel Rabier; M Gasquet; Pierre Kamoun
Intra- and interlaboratory quality control for assay of amino acids in biological fluids: 14 years of the French experience.
Clinical chemistry 1993;39(9):1831-6.
1993: K Monastiri; Daniel Rabier; Pierre Kamoun
Prenatal diagnosis of ornithine transcarbamylase deficiency: results in Spfash mice.
Prenatal diagnosis 1993;13(6):441-7.
1993: J L Michel; Daniel Rabier; C Rambaud; P Kamoun; Nicole Brousse; A Vassault; M Pla; D Calise; Y Revillon
[Intrasplenic transplantation of hepatocytes in spf-ash mice with congenital ornithine transcarbamylase deficiency].
Chirurgie; mémoires de l'Académie de chirurgie 1993;119(10):666-71.
1992: R J Wanders; Lodewijk IJlst; F Poggi; Jean-Paul Bonnefont; A Munnich; Michèle Brivet; Daniel Rabier; Jean-Marie Saudubray
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
Biochemical and biophysical research communications 1992;188(3):1139-45.
1992: Jean-Paul Bonnefont; Dominique Chretien; Pierre Rustin; B Robinson; A Vassault; J Aupetit; C Charpentier; Daniel Rabier; J M Saudubray; Arnold Munnich
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.
The Journal of pediatrics 1992;121(2):255-8.
1992: D Feldmann; Jean-Michel Rozet; Anna Pelet; D Hentzen; P Briand; P Hubert; C Largilliere; Daniel Rabier; J P Farriaux; Arnold Munnich
Site specific screening for point mutations in ornithine transcarbamylase deficiency.
Journal of medical genetics 1992;29(7):471-5.
1992: Daniel Rabier; P Parvy; J Bardet; Jean-Marie Saudubray; Pierre Kamoun
Alloisoleucine in isovaleric acidaemia.
Journal of inherited metabolic disease 1992;15(1):154-5.
1992: J M Saudubray; G Mitchell; Jean-Paul Bonnefont; G Schwartz; C Nuttin; Arnold Munnich; Michèle Brivet; A Vassault; France Demaugre; Daniel Rabier
Approach to the patient with a fatty acid oxidation disorder.
Progress in clinical and biological research 1992;375():271-88.
1991: V Cormier; Pierre Rustin; Jean-Paul Bonnefont; C Rambaud; A Vassault; Daniel Rabier; P Parvy; S Couderc; F Parrot-Roulaud; M Carré
Hepatic failure in disorders of oxidative phosphorylation with neonatal onset.
The Journal of pediatrics 1991;119(6):951-4.
1991: D Hentzen; Anna Pelet; D Feldman; Daniel Rabier; J Berthelot; Arnold Munnich
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
Human genetics 1991;88(2):153-6.
1991: P Parvy; J Bardet; Daniel Rabier; Pierre Kamoun
[Methodological errors in amino acid assay in biological fluids].
Annales de biologie clinique 1991;49(3):180-2.
1991: Daniel Rabier; P Parvy; J Bardet; Pierre Kamoun
[Hyperlysinemia and hyperammonemia].
Annales de biologie clinique 1991;49(1):45-8.
1991: P Parvy; J Bardet; Daniel Rabier; J Nedellec; Pierre Kamoun
A false hyperglycinaemia.
Journal of inherited metabolic disease 1991;14(1):112.
1991: Daniel Rabier; B Guillois; J Bardet; C Deprun; P Parvy; Pierre Kamoun
Ornithine carbamoyltransferase deficiency with subnormal enzyme activity.
Journal of inherited metabolic disease 1991;14(5):842-3.
1991: Daniel Rabier; C Narcy; J Bardet; P Parvy; Jean-Marie Saudubray; Pierre Kamoun
Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies.
Journal of inherited metabolic disease 1991;14(3):277-80.
1990: P Parvy; Daniel Rabier; J Boue; Jean-Marie Saudubray; Pierre Kamoun
Glycine/serine ratio and the prenatal diagnosis of non-ketotic hyperglycinaemia.
Prenatal diagnosis 1990;10(5):303-5.
1990: B Chadefaux; I Ceballos; Daniel Rabier; M Coude; Pierre Kamoun; J Boue; J Desgres
Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation.
American journal of medical genetics 1990;35(4):594.
1990: M Coude; B Chadefaux; Daniel Rabier; Pierre Kamoun
Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias.
Clinica chimica acta; international journal of clinical chemistry 1990;187(3):329-32.
1990: Anna Pelet; A Rotig; Catherine Bonaïti-Pellié; Daniel Rabier; V Cormier; E Toumas; D Hentzen; Jean-Marie Saudubray; Arnold Munnich
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.
Human genetics 1990;84(2):167-71.
1989: Daniel Rabier; A Benoit; F Petit; A Chekoury; Jean-Paul Bonnefont; Jean-Marie Saudubray; Pierre Kamoun
Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.
Clinica chimica acta; international journal of clinical chemistry 1989;186(1):25-9.
1989: M T García Silva; J P Bonnefont; A Rotig; N Romero; A Vassault; M Colonna; M Coude; Daniel Rabier; Arnold Munnich; M Fardeau
[Respiratory chain diseases in infancy. Clinical presentation and diagnosis].
Anales españoles de pediatría 1989;31(5):421-30.
1989: P Parvy; J Bardet; Daniel Rabier; Jean-Paul Bonnefont; Pierre Kamoun
A new pitfall in plasma amino acid analysis.
Clinical chemistry 1989;35(1):178.
1988: P R Parvy; J I Bardet; Daniel Rabier; Pierre Kamoun
Age-related reference values for free amino acids in first morning urine specimens.
Clinical chemistry 1988;34(10):2092-5.
1988: P Parvy; J Bardet; Daniel Rabier; Pierre Kamoun
Pseudo-cystinuria-lysinuria in neonatal propionic acidemia.
Clinical chemistry 1988;34(10):2158.
1988: P R Parvy; J I Bardet; Daniel Rabier; J M Saudubray; Pierre Kamoun
Ion-exchange chromatography and clinical criteria in the screening of the aminoacidopathies.
Clinica chimica acta; international journal of clinical chemistry 1988;176(3):269-77.
1988: B Chadefaux; C Augereau; Daniel Rabier; F Rocchiccioli; J Boué; J F Oury; Pierre Kamoun
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.
Prenatal diagnosis 1988;8(2):161-4.
1988: C Cavard; L Cathelineau; Daniel Rabier; Pascale Briand
Immunochemical analysis of nineteen ornithine transcarbamoylase deficiencies.
Enzyme 1988;40(1):51-6.
1988: B Chadefaux; Daniel Rabier; Pierre Kamoun
[Prenatal diagnosis of enzymopathies of the urea cycle].
Annales de biologie clinique 1988;46(7):471-6.