Chadefaux-Vekemans, B.: search on Z-Library

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1

Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique

A. Brassier, C. Ottolenghi, N. Boddaert, P. Sonigo, T. Attié-Bitach, A.-E. Millischer-Bellaiche, G. Baujat, V. Cormier-Daire, V. Valayannopoulos, N. Seta, M. Piraud, B. Chadefaux-Vekemans, C. Vianey-S

Journal:

Archives de Pédiatrie

Year:

2012

Language:

english

File:

PDF, 851 KB

english, 2012

2

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients

Naïm Bouazza, Jean-Marc Tréluyer, Chris Ottolenghi, Saik Urien, Georges Deschenes, Daniel Ricquier, Patrick Niaudet, Bernadette Chadefaux-Vekemans

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 342 KB

english, 2011

3

Endogenous hydrogen sulfide overproduction in Down syndrome

Pierre Kamoun, Maria-Cristina Belardinelli, Allel Chabli, Karim Lallouchi, Bernadette Chadefaux-Vekemans

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 41 KB

english, 2003

4

Excellent long-term outcome of renal transplantation in cystinosis patients

Cohen, Camille, Charbit, Marina, Chadefaux-Vekemans, Bernadette, Giral, Magali, Garrigue, Valérie, Kessler, Michèle, Antoine, Corinne, Snanoudj, Renaud, Niaudet, Patrick, Kreis, Henri, Legendre, Chris

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 958 KB

english, 2015

5

Homocystéine totale

Chadefaux-Vekemans, Bernadette

Journal:

EMC - Biologie Médicale

Year:

2006

Language:

french

File:

PDF, 210 KB

french, 2006

6

GESTATIONAL AGE-RELATED REFERENCE VALUES FOR AMNIOTIC FLUID AMINO ACIDS: A USEFUL TOOL FOR PRENATAL DIAGNOSIS OF AMINOACIDOPATHIES

D. RABIER, B. CHADEFAUX-VEKEMANS, J. F. OURY, J. AUPETIT, J. BARDET, M. GASQUET, E. MERHAND, P. PARVY, P. KAMOUN

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 469 KB

english, 1996

7

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 93 KB

english, 1998

8

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Angels García-Cazorla, Daniel Rabier, Guy Touati, Bernadette Chadefaux-Vekemans, Cécile Marsac, Pascale de Lonlay, Jean-Marie Saudubray

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 122 KB

english, 2006

9

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

Gilles Montalescot, Annick Ankri, Bernadette Chadefaux-Vekemans, Jacques Blacher, François Philippe, Gérard Drobinski, Rachid Benzidia, Pierre Kamoun, Daniel Thomas

Journal:

International Journal of Cardiology

Year:

1997

Language:

english

File:

PDF, 413 KB

english, 1997

10

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

Journal:

Clinical Chemistry

Year:

1995

File:

PDF, 518 KB

1995

11

Prenatal diagnosis of the urea cycle diseases: A survey of the european cases

Professor P. Kamoun, A. H. Fensom, Y. S. Shin, E. Bakker, J. P. Colombo, A. Munnich, S. Bird, S. Canini, J. G. M. Huijmans, B. Chadefaux-Vekemans, A. E. Whitfield, W. J. Kleijer

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 430 KB

english, 1995

12

Gestational age-related reference values for amniotic fluid organic acids

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

Journal:

Prenatal Diagnosis

Year:

2010

Language:

english

File:

PDF, 78 KB

english, 2010

13

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

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

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 136 KB

english, 1994

14

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

Pereira, P. L., Magnol, L., Sahun, I., Brault, V., Duchon, A., Prandini, P., Gruart, A., Bizot, J.-C., Chadefaux-Vekemans, B., Deutsch, S., Trovero, F., Delgado-Garcia, J. M., Antonarakis, S. E., Dier

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 532 KB

english, 2009

15

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

Massy, Z. A., Chadefaux-Vekemans, B., Chevalier, A., Bade, C. A., Drüeke, T. B., Legendre, C., Lacour, B., Kamoun, P., Kreis, H.

Journal:

Nephrology Dialysis Transplantation

Year:

1994

Language:

english

File:

PDF, 542 KB

english, 1994

16

Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria

Grotto, Sarah, Sudrié-Arnaud, Bénédicte, Drouin-Garraud, Valérie, Nafeh-Bizet, Catherine, Chadefaux-Vekemans, Bernadette, Gobin, Stéphanie, Bekri, Soumeya, Tebani, Abdellah

Journal:

Clinical Chemistry

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018

17

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

Bernard Aral, Marie Coudé, Jacqueline London, Joelle Aupetit, Jean-François Chassé, Marie-Thérèse Zabot, Bernadette Chadefaux-Vekemans, Pierre Kamoun

Journal:

Year:

1997

Language:

english

File:

PDF, 119 KB

english, 1997

18

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

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

Journal:

Clinical Biochemistry

Year:

2007

Language:

english

File:

PDF, 803 KB

english, 2007

19

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

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

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 137 KB

english, 1998

20

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

Sophie Monnot, Valérie Serre, Bernadette Chadefaux-Vekemans, Joelle Aupetit, Stéphane Romano, Pascale De Lonlay, Jean-Marie Rival, Arnold Munnich, Julie Steffann, Jean-Paul Bonnefont

Journal:

Year:

2009

Language:

english

File:

PDF, 452 KB

english, 2009

21

Four novel mutations at the cystathionine β-synthase locus causing homocystinuria

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 64 KB

english, 1998

22

Late-Onset Nephropathic Cystinosis: Clinical Presentation, Outcome, and Genotyping

Servais, A., Moriniere, V., Grunfeld, J.-P., Noel, L.-H., Goujon, J.-M., Chadefaux-Vekemans, B., Antignac, C.

Journal:

Clinical Journal of the American Society of Nephrology

Year:

2008

Language:

english

File:

PDF, 779 KB

english, 2008

23

Methylenetetrahydrofolate Reductase Polymorphism in the Etiology of Down Syndrome

Chadefaux-Vekemans, Bernadette, Coudé, Marie, Muller, Françoise, Oury, Jean François, Chabli, Allel, Jaïs, Jean Philippe, Kamoun, Pierre

Journal:

Pediatric Research

Year:

2002

Language:

english

File:

PDF, 160 KB

english, 2002

24

Methylenetetrahydrofolate Reductase Polymorphism in the Etiology of Down Syndrome

CHADEFAUX-VEKEMANS, B.

Journal:

Pediatric Research

Year:

2002

Language:

english

File:

PDF, 160 KB

english, 2002

25

Effects in cancer cells of the recombinant L-Methionine gamma-lyase from Brevibacterium aurantiacum. Encapsulation in human erythrocytes for sustained L-methionine elimination

Machover, David, Rossi, Luigia, Hamelin, Jocelyne, Desterke, Christophe, Goldschmidt, Emma, Chadefaux-Vekemans, Bernadette, Bonnarme, Pascal, Briozzo, Pierre, Kopecny, David, Pierige, Francesca, Magna

Journal:

Journal of Pharmacology and Experimental Therapeutics

Year:

2019

Language:

english

File:

PDF, 931 KB

english, 2019

26

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

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

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 46 KB

english, 2002

27

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

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

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 557 KB

english, 2015

28

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

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

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 67 KB

english, 2006

29

Very Low Oral Doses of Vitamin B-12 Increase Serum Concentrations in Elderly Subjects with Food-Bound Vitamin B-12 Malabsorption

Blacher, Jacques, Czernichow, Sébastien, Raphaöl, Mathilde, Roussel, Christophe, Chadefaux-Vekemans, Bernadette, Morineau, Gilles, Giraudier, Stéphane, Tibi, Annick, Henry, Olivier, Vayssière, Michel,

Journal:

Journal of Nutrition

Year:

2007

Language:

english

File:

PDF, 162 KB

english, 2007

30

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

Touam, Malik, Zingraff, Johanna, Jungers, Paul, Chadefaux-Vekemans, Bernadette, Drueke, Tilman, Massy, Ziad A.

Journal:

Kidney International

Year:

1999

Language:

english

File:

PDF, 282 KB

english, 1999

31

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

Jezegou, A., Llinares, E., Anne, C., Kieffer-Jaquinod, S., O'Regan, S., Aupetit, J., Chabli, A., Sagne, C., Debacker, C., Chadefaux-Vekemans, B., Journet, A., Andre, B., Gasnier, B.

Journal:

Proceedings of the National Academy of Sciences

Year:

2012

Language:

english

File:

PDF, 2.02 MB

english, 2012

32

Urinary Sulfur Compounds in Down Syndrome

Belardinelli, Maria-Cristina, Chabli, Allel, Chadefaux-Vekemans, Bernadette, Kamoun, Pierre

Journal:

Clinical Chemistry

Year:

2001

File:

PDF, 138 KB

2001

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