B. Chadefaux

发表

Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias.

D. Rabier, P. Kamoun, P. Kamoun, 1990, Clinica chimica acta; international journal of clinical chemistry.

Increased plasma homocysteine concentration in patients with chronic renal failure.

P. Jungers, P. Chauveau, P. Kamoun, 1992, Mineral and electrolyte metabolism.

Sustained reduction of hyperhomocysteinaemia with folic acid supplementation in predialysis patients.

Z. Massy, P. Jungers, D. Joly, 1999, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Hyperhomocysteinemia, a risk factor for atherosclerosis in chronic uremic patients.

P. Jungers, P. Chauveau, P. Kamoun, 1993, Kidney international. Supplement.

Long-term folic acid (but not pyridoxine) supplementation lowers elevated plasma homocysteine level in chronic renal failure.

P. Jungers, P. Kamoun, P. Chauveau, 1996, Mineral and electrolyte metabolism.

Cystathionine beta synthase: gene dosage effect in trisomy 21.

M. Rethoré, O. Raoul, D. Allard, 1985, Biochemical and biophysical research communications.

Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome)

J. Delabar, P. Sinet, D. Stéhelin, 1987, Human Genetics.

Elevated total plasma homocysteine, a risk factor for thrombosis. Relation to coagulation and fibrinolytic parameters.

G. Montalescot, P. Kamoun, T. Bienvenu, 1993, Thrombosis research.

Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221

M. Rethoré, O. Raoul, D. Allard, 2004, Human Genetics.

Hyperhomocysteinemia is associated with atherosclerotic occlusive arterial accidents in predialysis chronic renal failure patients.

P. Jungers, P. Kamoun, P. Chauveau, 1997, Mineral and electrolyte metabolism.

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

D. Rabier, Y. Emre, D. Ricquier, 2008, Biochimica et biophysica acta.

Concentrations of total homocysteine in plasma in chronic renal failure.

P. Kamoun, M. Coudé, O. Gaillard, 1990, Clinical chemistry.

Mosaic tetrasomy 12p

M. Prieur, B. Foliguet, P. Droullé, 1985, Clinical genetics.

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase

S. Ellard, A. Heslegrave, S. Flanagan, 2012, Orphanet Journal of Rare Diseases.

Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations

S. Ellard, S. Flanagan, K. Hussain, 2009, European journal of endocrinology.

Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases

P. Kamoun, B. Chadefaux, 1991, Prenatal diagnosis.

Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation.

D. Rabier, P. Kamoun, J. Desgrès, 1990, American journal of medical genetics.

Rapid determination of total homocysteine in plasma.

P. Kamoun, M. Coudé, B. Chadefaux, 1989, Clinical chemistry.

Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

D. Rabier, P. Kamoun, J. Saudubray, 1989, American journal of medical genetics.

Pitfalls in the prenatal diagnosis of argininosuccinuria.

D. Rabier, P. Kamoun, B. Chadefaux, 1988, American journal of medical genetics.

Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis

P. Kamoun, J. Saudubray, J. Bonnefont, 1989, Journal of Inherited Metabolic Disease.

IS ABSENCE OF ATHEROMA IN DOWN SYNDROME DUE TO DECREASED HOMOCYSTEINE LEVELS?

P. Kamoun, M. Coudé, D. Allard, 1988, The Lancet.

[Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21].

J. Fryns, M. Prieur, P. Droullé, 1987, Journal de genetique humaine.

Salivary homocyst(e)ine concentrations.

P. Kamoun, B. Chadefaux, M. Boulot-Tolle, 1992, Clinical chemistry.

[Plasma homocysteine assay in the exploration of thrombosis in young subjects].

P. Kamoun, T. Bienvenu, A. Ankri, 1991, Presse medicale.

Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase

D. Rabier, F. Rocchiccioli, P. Kamoun, 1988, Prenatal diagnosis.

Regional mapping of liver type 6 phosphofructokinase isoenzyme on chromosome 21

M. Rethoré, D. Allard, B. Chadefaux, 2004, Human Genetics.