Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 194

1.

Metabotyping of 30 maize hybrids under early-sowing conditions reveals potential marker-metabolites for breeding.

Lamari N, Zhendre V, Urrutia M, Bernillon S, Maucourt M, Deborde C, Prodhomme D, Jacob D, Ballias P, Rolin D, Sellier H, Rabier D, Gibon Y, Giauffret C, Moing A.

Metabolomics. 2018 Sep 26;14(10):132. doi: 10.1007/s11306-018-1427-8.

2.

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

Gérard M, Morin G, Bourillon A, Colson C, Mathieu S, Rabier D, Billette de Villemeur T, Ogier de Baulny H, Benoist JF.

Eur J Med Genet. 2015 Mar;58(3):148-53. doi: 10.1016/j.ejmg.2014.12.015. Epub 2015 Jan 13.

PMID:
25595573
3.

Serum 2-hydroxyglutarate production in IDH1- and IDH2-mutated de novo acute myeloid leukemia: a study by the Acute Leukemia French Association group.

Janin M, Mylonas E, Saada V, Micol JB, Renneville A, Quivoron C, Koscielny S, Scourzic L, Forget S, Pautas C, Caillot D, Preudhomme C, Dombret H, Berthon C, Barouki R, Rabier D, Auger N, Griscelli F, Chachaty E, Leclercq E, Courtier MH, Bennaceur-Griscelli A, Solary E, Bernard OA, Penard-Lacronique V, Ottolenghi C, de Botton S.

J Clin Oncol. 2014 Feb 1;32(4):297-305. doi: 10.1200/JCO.2013.50.2047. Epub 2013 Dec 16.

PMID:
24344214
4.

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P.

Orphanet J Rare Dis. 2013 Sep 23;8:148. doi: 10.1186/1750-1172-8-148.

5.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

Brassier A, Boyer O, Valayannopoulos V, Ottolenghi C, Krug P, Cosson MA, Touati G, Arnoux JB, Barbier V, Bahi-Buisson N, Desguerre I, Charbit M, Benoist JF, Dupic L, Aigrain Y, Blanc T, Salomon R, Rabier D, Guest G, de Lonlay P, Niaudet P.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):106-10. doi: 10.1016/j.ymgme.2013.05.001. Epub 2013 May 14.

PMID:
23751327
6.

Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.

Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chrétien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P.

Mol Genet Metab. 2013 May;109(1):28-32. doi: 10.1016/j.ymgme.2013.01.017. Epub 2013 Feb 1.

PMID:
23478190
7.

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.

Barth M, Serre V, Hubert L, Chaabouni Y, Bahi-Buisson N, Cadoudal M, Rabier D, Tich SN, Ribeiro M, Ricquier D, Munnich A, Bonneau D, de Lonlay P, Christa L.

JIMD Rep. 2012;3:25-32. doi: 10.1007/8904_2011_43. Epub 2011 Sep 16.

8.

Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture.

Servais A, Arnoux JB, Lamy C, Hummel A, Vittoz N, Katerinis I, Bazzaoui V, Dubois S, Broissand C, Husson MC, Berleur MP, Rabier D, Ottolenghi C, Valayannopoulos V, de Lonlay P.

J Inherit Metab Dis. 2013 Nov;36(6):939-44. doi: 10.1007/s10545-012-9570-2. Epub 2012 Dec 19.

PMID:
23250513
9.

Portosystemic shunts: an underdiagnosed but treatable cause of neurological and psychiatric disorders.

Degos B, Daelman L, Huberfeld G, Meppiel E, Rabier D, Galanaud D, Magis AS, Lyon-Caen O, Samuel D, Sedel F.

J Neurol Sci. 2012 Oct 15;321(1-2):58-64. doi: 10.1016/j.jns.2012.07.050. Epub 2012 Aug 17. Review.

PMID:
22906583
10.

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.

Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, Petit F, Labrune P, Rabier D, Ottolenghi C, Vassault A, Broissand C, Bonnet D, de Lonlay P.

Pediatr Res. 2011 Dec;70(6):638-41. doi: 10.1203/PDR.0b013e318232154f.

PMID:
21857385
11.

Mevalonate kinase deficiency: a survey of 50 patients.

Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, Richer O, Farber CM, Fischbach M, Hentgen V, Jego P, Laroche C, Neven B, Lequerré T, Mathian A, Pellier I, Touitou I, Rabier D, Prieur AM, Cuisset L, Quartier P; SOFREMIP (Société Francophone pour la Rhumatologie et les Maladies Inflammatoires en Pédiatrie); CRI (Club Rhumatismes et Inflammations).

Pediatrics. 2011 Jul;128(1):e152-9. doi: 10.1542/peds.2010-3639. Epub 2011 Jun 27.

PMID:
21708801
12.

Clinical and biochemical heterogeneity associated with fumarase deficiency.

Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P.

Hum Mutat. 2011 Sep;32(9):1046-52. doi: 10.1002/humu.21534. Epub 2011 Jul 12.

PMID:
21560188
13.

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, Munnich A, Saudubray JM, Rabier D, Rigal O, Brivet M.

Mol Genet Metab. 2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006. Epub 2011 Apr 19.

PMID:
21549624
14.

Validation of plasma branched chain amino acids as biomarkers in Huntington disease.

Mochel F, Benaich S, Rabier D, Durr A.

Arch Neurol. 2011 Feb;68(2):265-7. doi: 10.1001/archneurol.2010.358. No abstract available.

PMID:
21320997
15.

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27.

PMID:
20978941
16.

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.

Dessein AF, Fontaine M, Andresen BS, Gregersen N, Brivet M, Rabier D, Napuri-Gouel S, Dobbelaere D, Mention-Mulliez K, Martin-Ponthieu A, Briand G, Millington DS, Vianey-Saban C, Wanders RJ, Vamecq J.

Orphanet J Rare Dis. 2010 Oct 5;5:26. doi: 10.1186/1750-1172-5-26.

17.

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.

Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA.

Biochim Biophys Acta. 2010 Nov;1802(11):1028-35. doi: 10.1016/j.bbadis.2010.06.007. Epub 2010 Jun 18.

18.

Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease.

Mochel F, Duteil S, Marelli C, Jauffret C, Barles A, Holm J, Sweetman L, Benoist JF, Rabier D, Carlier PG, Durr A.

Eur J Hum Genet. 2010 Sep;18(9):1057-60. doi: 10.1038/ejhg.2010.72. Epub 2010 May 26.

19.

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Valayannopoulos V, Haudry C, Serre V, Barth M, Boddaert N, Arnoux JB, Cormier-Daire V, Rio M, Rabier D, Vassault A, Munnich A, Bonnefont JP, de Lonlay P, Rötig A, Lebre AS.

Mitochondrion. 2010 Jun;10(4):335-41. doi: 10.1016/j.mito.2010.02.006. Epub 2010 Mar 1.

PMID:
20197121
20.

Gestational age-related reference values for amniotic fluid organic acids.

Ottolenghi C, Abermil N, Lescoat A, Aupetit J, Beaugendre O, Morichon-Delvallez N, Ricquier D, Chadefaux-Vekemans B, Rabier D.

Prenat Diagn. 2010 Jan;30(1):43-8. doi: 10.1002/pd.2414.

PMID:
19950217
21.

Cardiomyopathies in propionic aciduria are reversible after liver transplantation.

Romano S, Valayannopoulos V, Touati G, Jais JP, Rabier D, de Keyzer Y, Bonnet D, de Lonlay P.

J Pediatr. 2010 Jan;156(1):128-34. doi: 10.1016/j.jpeds.2009.07.002.

PMID:
19818452
22.

Management of West syndrome in a patient with methylmalonic aciduria.

Campeau PM, Valayannopoulos V, Touati G, Bahi-Buisson N, Boddaert N, Plouin P, Rabier D, Benoist JF, Dulac O, de Lonlay P, Desguerre I.

J Child Neurol. 2010 Jan;25(1):94-7. doi: 10.1177/0883073809336119. Epub 2009 Aug 21.

PMID:
19700743
23.

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

Cosson MA, Benoist JF, Touati G, Déchaux M, Royer N, Grandin L, Jais JP, Boddaert N, Barbier V, Desguerre I, Campeau PM, Rabier D, Valayannopoulos V, Niaudet P, de Lonlay P.

Mol Genet Metab. 2009 Jul;97(3):172-8. doi: 10.1016/j.ymgme.2009.03.006. Epub 2009 Mar 24.

PMID:
19375370
24.

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

Valayannopoulos V, Boddaert N, Mention K, Touati G, Barbier V, Chabli A, Sedel F, Kaplan J, Dufier JL, Seidenwurm D, Rabier D, Saudubray JM, de Lonlay P.

Mol Genet Metab. 2009 Jun;97(2):109-13. doi: 10.1016/j.ymgme.2008.12.010. Epub 2009 Mar 31.

PMID:
19345633
25.

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).

Valayannopoulos V, Hubert L, Benoist JF, Romano S, Arnoux JB, Chrétien D, Kaplan J, Fakhouri F, Rabier D, Rötig A, Lebre AS, Munnich A, de Keyzer Y, de Lonlay P.

J Inherit Metab Dis. 2009 Apr;32(2):159-62. doi: 10.1007/s10545-009-1023-1. Epub 2009 Mar 13.

PMID:
19277894
26.

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.

Cosson MA, Touati G, Lacaille F, Valayannnopoulos V, Guyot C, Guest G, Verkarre V, Chrétien D, Rabier D, Munnich A, Benoist JF, de Keyzer Y, Niaudet P, de Lonlay P.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):107-9. doi: 10.1016/j.ymgme.2008.06.007. Epub 2008 Aug 3.

PMID:
18676166
27.

Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

Feillet F, Merten M, Battaglia-Hsu SF, Rabier D, Kobayashi K, Straczek J, Brivet M, Favre E, Guéant JL.

J Hepatol. 2008 Mar;48(3):517-22. doi: 10.1016/j.jhep.2007.11.016. Epub 2007 Dec 31.

PMID:
18207281
28.

L-arginine metabolism in dog kidney and isolated nephron segments.

Levillain O, Rabier D, Duclos B, Gaudreau P, Vinay P.

Metabolism. 2008 Jan;57(1):9-23.

29.

Modified glutamine catabolism in macrophages of Ucp2 knock-out mice.

Nübel T, Emre Y, Rabier D, Chadefaux B, Ricquier D, Bouillaud F.

Biochim Biophys Acta. 2008 Jan;1777(1):48-54. Epub 2007 Nov 12.

30.

What's new in metabolic and genetic hypoglycaemias: diagnosis and management.

Valayannopoulos V, Romano S, Mention K, Vassault A, Rabier D, Polak M, Robert JJ, de Keyzer Y, de Lonlay P.

Eur J Pediatr. 2008 Mar;167(3):257-65. Epub 2007 Oct 3. Review.

PMID:
17912550
31.

Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.

Mochel F, Charles P, Seguin F, Barritault J, Coussieu C, Perin L, Le Bouc Y, Gervais C, Carcelain G, Vassault A, Feingold J, Rabier D, Durr A.

PLoS One. 2007 Jul 25;2(7):e647.

32.

Allogeneic bone marrow transplantation in mevalonic aciduria.

Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debré M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A.

N Engl J Med. 2007 Jun 28;356(26):2700-3.

33.

Biomarkers identified in inborn errors for lysine, arginine, and ornithine.

Saudubray JM, Rabier D.

J Nutr. 2007 Jun;137(6 Suppl 2):1669S-1672S. doi: 10.1093/jn/137.6.1669S. Review.

PMID:
17513445
34.

Early neurological phenotype in 4 children with biallelic PRODH mutations.

Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D.

Brain Dev. 2007 Oct;29(9):547-52. Epub 2007 Apr 6.

PMID:
17412540
35.

The use of MapPop1.0 for choosing a QTL mapping sample from an advanced backcross population.

Birolleau-Touchard C, Hanocq E, Bouchez A, Bauland C, Dourlen I, Seret JP, Rabier D, Hervet S, Allienne JF, Lucas P, Jaminon O, Etienne R, Baudhuin G, Giauffret C.

Theor Appl Genet. 2007 Apr;114(6):1019-28. Epub 2007 Feb 14.

PMID:
17394032
36.

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.

Garcia-Cazorla A, De Lonlay P, Rustin P, Chretien D, Touati G, Rabier D, Slama A, Saudubray JM.

J Pediatr. 2006 Sep;149(3):401-405.

PMID:
16939756
37.

Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience.

Chadefaux-Vekemans B, Rabier D, Cadoudal N, Lescoat A, Chabli A, Aupetit J, Dumez Y, Oury JF.

Prenat Diagn. 2006 Sep;26(9):814-8.

PMID:
16821251
38.

Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

Touati G, Valayannopoulos V, Mention K, de Lonlay P, Jouvet P, Depondt E, Assoun M, Souberbielle JC, Rabier D, Ogier de Baulny H, Saudubray JM.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):288-98.

PMID:
16763890
39.

Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

Mochel F, Grébille AG, Benachi A, Martinovic J, Razavi F, Rabier D, Simon I, Boddaert N, Brunelle F, Sonigo P.

AJNR Am J Neuroradiol. 2006 Feb;27(2):333-6.

40.

Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.

Oude Luttikhuis HG, Touati G, Rabier D, Williams M, Jakobs C, Saudubray JM.

J Inherit Metab Dis. 2005;28(6):1136-8.

PMID:
16435207
41.

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.

García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM.

Ann Neurol. 2006 Jan;59(1):121-7.

PMID:
16278852
42.

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

Brière JJ, Favier J, Bénit P, El Ghouzzi V, Lorenzato A, Rabier D, Di Renzo MF, Gimenez-Roqueplo AP, Rustin P.

Hum Mol Genet. 2005 Nov 1;14(21):3263-9. Epub 2005 Sep 29.

PMID:
16195397
43.

Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep.

Arnulf I, Konofal E, Gibson KM, Rabier D, Beauvais P, Derenne JP, Philippe A.

Sleep. 2005 Apr;28(4):418-24.

PMID:
16171286
44.

Kinetic modeling of plasma leucine levels during continuous venovenous extracorporeal removal therapy in neonates with maple syrup urine disease.

Jouvet P, Hubert P, Saudubray JM, Rabier D, Man NK.

Pediatr Res. 2005 Aug;58(2):278-82. Epub 2005 Jul 7.

PMID:
16085796
45.

Methylmalonic and propionic acidaemias: management and outcome.

de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM.

J Inherit Metab Dis. 2005;28(3):415-23. Review.

PMID:
15868474
46.

Urea cycle defects: management and outcome.

Nassogne MC, Héron B, Touati G, Rabier D, Saudubray JM.

J Inherit Metab Dis. 2005;28(3):407-14. Review.

PMID:
15868473
47.

Respiratory chain defects may present only with hypoglycemia.

Mochel F, Slama A, Touati G, Desguerre I, Giurgea I, Rabier D, Brivet M, Rustin P, Saudubray JM, DeLonlay P.

J Clin Endocrinol Metab. 2005 Jun;90(6):3780-5. Epub 2005 Mar 22.

PMID:
15784700
48.

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, Roe CR, Saudubray JM.

Mol Genet Metab. 2005 Apr;84(4):305-12.

PMID:
15781190
49.

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.

Baumgartner MR, Rabier D, Nassogne MC, Dufier JL, Padovani JP, Kamoun P, Valle D, Saudubray JM.

Eur J Pediatr. 2005 Jan;164(1):31-6. Epub 2004 Oct 28.

PMID:
15517380
50.

Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).

Philippe A, Deron J, Geneviève D, de Lonlay P, Gibson KM, Rabier D, Munnich A.

Dev Med Child Neurol. 2004 Aug;46(8):564-8.

Supplemental Content

Loading ...
Support Center