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Items: 39

1.

Effects in Cancer Cells of the Recombinant l-Methionine Gamma-Lyase from Brevibacterium aurantiacum. Encapsulation in Human Erythrocytes for Sustained l-Methionine Elimination.

Machover D, Rossi L, Hamelin J, Desterke C, Goldschmidt E, Chadefaux-Vekemans B, Bonnarme P, Briozzo P, Kopečný D, Pierigè F, Magnani M, Mollicone R, Haghighi-Rad F, Gaston-Mathé Y, Dairou J, Boucheix C, Saffroy R.

J Pharmacol Exp Ther. 2019 Jun;369(3):489-502. doi: 10.1124/jpet.119.256537. Epub 2019 Apr 2.

PMID:
30940696
2.

Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.

Grotto S, Sudrié-Arnaud B, Drouin-Garraud V, Nafeh-Bizet C, Chadefaux-Vekemans B, Gobin S, Bekri S, Tebani A.

Clin Chem. 2018 Apr;64(4):752-754. doi: 10.1373/clinchem.2017.281246. No abstract available.

PMID:
29592908
3.

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.

Abi-Wardé MT, Roda C, Arnoux JB, Servais A, Habarou F, Brassier A, Pontoizeau C, Barbier V, Bayart M, Leboeuf V, Chadefaux-Vekemans B, Dubois S, Assoun M, Belloche C, Alili JM, Husson MC, Lesage F, Dupic L, Theuil B, Ottolenghi C, de Lonlay P.

J Inherit Metab Dis. 2017 Nov;40(6):783-792. doi: 10.1007/s10545-017-0083-x. Epub 2017 Sep 13.

PMID:
28905140
4.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P.

Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27.

5.

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C.

JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27.

6.

Excellent long-term outcome of renal transplantation in cystinosis patients.

Cohen C, Charbit M, Chadefaux-Vekemans B, Giral M, Garrigue V, Kessler M, Antoine C, Snanoudj R, Niaudet P, Kreis H, Legendre C, Servais A.

Orphanet J Rare Dis. 2015 Jul 25;10:90. doi: 10.1186/s13023-015-0307-9.

7.

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.

Habarou F, Brassier A, Rio M, Chrétien D, Monnot S, Barbier V, Barouki R, Bonnefont JP, Boddaert N, Chadefaux-Vekemans B, Le Moyec L, Bastin J, Ottolenghi C, de Lonlay P.

Mol Genet Metab Rep. 2014 Nov 28;2:25-31. doi: 10.1016/j.ymgmr.2014.11.001. eCollection 2015 Mar.

8.

Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.

Jézégou A, Llinares E, Anne C, Kieffer-Jaquinod S, O'Regan S, Aupetit J, Chabli A, Sagné C, Debacker C, Chadefaux-Vekemans B, Journet A, André B, Gasnier B.

Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):E3434-43. doi: 10.1073/pnas.1211198109. Epub 2012 Nov 20. Erratum in: Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3197.

9.

[Prenatal symptoms and diagnosis of inherited metabolic diseases].

Brassier A, Ottolenghi C, Boddaert N, Sonigo P, Attié-Bitach T, Millischer-Bellaiche AE, Baujat G, Cormier-Daire V, Valayannopoulos V, Seta N, Piraud M, Chadefaux-Vekemans B, Vianey-Saban C, Froissart R, de Lonlay P.

Arch Pediatr. 2012 Sep;19(9):959-69. doi: 10.1016/j.arcped.2012.06.002. Epub 2012 Aug 9. French.

PMID:
22884749
10.

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients.

Bouazza N, Tréluyer JM, Ottolenghi C, Urien S, Deschenes G, Ricquier D, Niaudet P, Chadefaux-Vekemans B.

Orphanet J Rare Dis. 2011 Dec 23;6:86. doi: 10.1186/1750-1172-6-86.

11.

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
12.

A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome.

Pereira PL, Magnol L, Sahún I, Brault V, Duchon A, Prandini P, Gruart A, Bizot JC, Chadefaux-Vekemans B, Deutsch S, Trovero F, Delgado-García JM, Antonarakis SE, Dierssen M, Herault Y.

Hum Mol Genet. 2009 Dec 15;18(24):4756-69. doi: 10.1093/hmg/ddp438. Epub 2009 Sep 26.

13.

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, De Lonlay P, Rival JM, Munnich A, Steffann J, Bonnefont JP.

Hum Mutat. 2009 May;30(5):734-40. doi: 10.1002/humu.20908.

PMID:
19306334
14.

Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.

Bahi-Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, Heinrichs C, Chadefaux-Vekemans B, Dan B, de Lonlay P.

Dev Med Child Neurol. 2008 Dec;50(12):945-9. doi: 10.1111/j.1469-8749.2008.03114.x. Erratum in: Dev Med Child Neurol. 2009 Jan;51(1):77.. Chadefaux-Vekemans, Bernadette [added]; Dan, Bernard [added]; de Lonlay,Pascale [added].

15.

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.

Servais A, Morinière V, Grünfeld JP, Noël LH, Goujon JM, Chadefaux-Vekemans B, Antignac C.

Clin J Am Soc Nephrol. 2008 Jan;3(1):27-35. doi: 10.2215/CJN.01740407.

16.

Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry.

Chabli A, Aupetit J, Raehm M, Ricquier D, Chadefaux-Vekemans B.

Clin Biochem. 2007 Jun;40(9-10):692-8. Epub 2007 Mar 13.

PMID:
17459360
17.

Very low oral doses of vitamin B-12 increase serum concentrations in elderly subjects with food-bound vitamin B-12 malabsorption.

Blacher J, Czernichow S, Raphaël M, Roussel C, Chadefaux-Vekemans B, Morineau G, Giraudier S, Tibi A, Henry O, Vayssière M, Oudjhani M, Nadaï S, Vincent JP, Bodak A, Di Menza C, Ménard J, Zittoun J, Ducimetière P.

J Nutr. 2007 Feb;137(2):373-8.

PMID:
17237314
18.

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
19.

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
20.

[Homocysteine, folic acid, group B vitamins and cardiovascular risk].

Blacher J, Czernichow S, Horrellou MH, Conad J, David P, Chadefaux-Vekemans B, Ankria A, Galan P, Hercberg S, Ducimetière P.

Arch Mal Coeur Vaiss. 2005 Feb;98(2):145-52. Review. French.

PMID:
15787307
21.

Endogenous hydrogen sulfide overproduction in Down syndrome.

Kamoun P, Belardinelli MC, Chabli A, Lallouchi K, Chadefaux-Vekemans B.

Am J Med Genet A. 2003 Jan 30;116A(3):310-1. No abstract available.

PMID:
12503113
22.

Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid.

Chadefaux-Vekemans B, Rabier D, Chabli A, Blanc A, Aupetit J, Bardet J, Kamoun P.

Prenat Diagn. 2002 Jun;22(6):456-8.

PMID:
12116302
23.

Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome.

Chadefaux-Vekemans B, Coudé M, Muller F, Oury JF, Chabli A, Jaïs J, Kamoun P.

Pediatr Res. 2002 Jun;51(6):766-7.

PMID:
12032275
24.

Urinary sulfur compounds in Down syndrome.

Belardinelli MC, Chabli A, Chadefaux-Vekemans B, Kamoun P.

Clin Chem. 2001 Aug;47(8):1500-1. No abstract available.

PMID:
11468253
25.

Effective correction of hyperhomocysteinemia in hemodialysis patients by intravenous folinic acid and pyridoxine therapy.

Touam M, Zingraff J, Jungers P, Chadefaux-Vekemans B, Drüeke T, Massy ZA.

Kidney Int. 1999 Dec;56(6):2292-6.

26.

Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

Coudé M, Aupetit J, Zabot MT, Kamoun P, Chadefaux-Vekemans B.

J Inherit Metab Dis. 1998 Dec;21(8):823-8.

PMID:
9870207
27.

Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?

Thuillier L, Chadefaux-Vekemans B, Bonnefont JP, Kara A, Aupetit J, Rochette C, Montalescot G, Couty MC, Kamoun P, Ankri A.

J Inherit Metab Dis. 1998 Dec;21(8):812-22.

PMID:
9870206
28.

Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.

Merinero B, Pérez-Cerdá C, Garcia MJ, Chadefaux-Vekemans B, Kamoun P, Tonetti C, Zittoun J, Jakobs C, Ugarte M.

Prenat Diagn. 1998 Sep;18(9):947-52.

PMID:
9793978
29.

Carotid atherosclerosis in renal transplant recipients.

Massy ZA, Mamzer-Bruneel MF, Chevalier A, Millet P, Helenon O, Chadefaux-Vekemans B, Legendre C, Bader C, Drüeke T, Lacour B, Kreis H.

Nephrol Dial Transplant. 1998 Jul;13(7):1792-8.

PMID:
9681730
30.

Plasma homocysteine and the extent of atherosclerosis in patients with coronary artery disease.

Montalescot G, Ankri A, Chadefaux-Vekemans B, Blacher J, Philippe F, Drobinski G, Benzidia R, Kamoun P, Thomas D.

Int J Cardiol. 1997 Aug 8;60(3):295-300.

PMID:
9261641
31.

Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.

Aral B, Coudé M, London J, Aupetit J, Chassé JF, Zabot MT, Chadefaux-Vekemans B, Kamoun P.

Hum Mutat. 1997;9(1):81-2. No abstract available.

PMID:
8990018
32.

[Hyperhomocysteinemia in coronary artery diseases. Apropos of a study on 102 patients].

Blacher J, Montalescot G, Ankri A, Chadefaux-Vekemans B, Benzidia R, Grosgogeat Y, Kamoun P, Thomas D.

Arch Mal Coeur Vaiss. 1996 Oct;89(10):1241-6. French.

PMID:
8952820
33.

Thrombophilia, homocystinuria, and mutation of the factor V gene.

Quéré I, Lamarti H, Chadefaux-Vekemans B.

N Engl J Med. 1996 Jul 25;335(4):289; author reply 290. No abstract available.

PMID:
8657259
34.

Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies.

Rabier D, Chadefaux-Vekemans B, Oury JF, Aupetit J, Bardet J, Gasquet M, Merhand E, Parvy P, Kamoun P.

Prenat Diagn. 1996 Jul;16(7):623-8.

PMID:
8843471
35.

[Value of an extensive biological study in venous or arterial thromboses].

Tazi Z, Cacoub P, Koskas F, Chabanel A, Chadefaux-Vekemans B, Horellou MH, Viard JP, Piette JC, Kieffer E, Godeau P.

Presse Med. 1996 Mar 30;25(11):531-6. French.

PMID:
8731796
36.

Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria.

Parvy P, Bardet J, Chadefaux-Vekemans B, Rabier D, Gasquet M, Aupetit J, Kamoun P.

Clin Chem. 1995 Nov;41(11):1663-4. No abstract available.

PMID:
7586560
37.

Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.

Kamoun P, Fensom AH, Shin YS, Bakker E, Colombo JP, Munnich A, Bird S, Canini S, Huijmans JG, Chadefaux-Vekemans B, et al.

Am J Med Genet. 1995 Jan 16;55(2):247-50. Review.

PMID:
7717428
38.

Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)

Chadefaux-Vekemans B, Rolland MO, Lyonnet S, Rabier D, Divry P, Kamoun P.

Prenat Diagn. 1994 May;14(5):417-8. No abstract available.

PMID:
7916155
39.

Hyperhomocysteinaemia: a significant risk factor for cardiovascular disease in renal transplant recipients.

Massy ZA, Chadefaux-Vekemans B, Chevalier A, Bader CA, Drüeke TB, Legendre C, Lacour B, Kamoun P, Kreis H.

Nephrol Dial Transplant. 1994;9(8):1103-8.

PMID:
7800208

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