J. Aupetit

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

D. Rabier, A. Chabli, B. Chadefaux-Vekemans, 2006, Prenatal diagnosis.

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

D. Rabier, P. Parvy, P. Kamoun, 1995, Clinical chemistry.

Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient

D. Rabier, J. Saudubray, P. Kamoun, 2000, Neuromuscular Disorders.

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

B. André, A. Chabli, B. Chadefaux-Vekemans, 2012, Proceedings of the National Academy of Sciences.

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.

Plasma homocysteine levels are not increased in murine models of Alzheimer's disease

N. Janel, D. Santiard-Baron, J. Aupetit, 2005, Neuroscience Research.

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.

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

J. Saudubray, T. Attié-Bitach, J. Bonnefont, 2003, Prenatal diagnosis.

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

A. Munnich, J. Steffann, B. Chadefaux-Vekemans, 2009, Human Mutation.

Gestational age‐related reference values for amniotic fluid organic acids

D. Rabier, B. Chadefaux-Vekemans, C. Ottolenghi, 2010, Prenatal diagnosis.

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

A. Chabli, B. Chadefaux-Vekemans, D. Ricquier, 2007, Clinical biochemistry.

The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia

K. Robert, N. Janel, P. Kamoun, 2004, Journal of neurochemistry.

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

D. Rabier, P. Kamoun, A. Chabli, 2002, Prenatal diagnosis.

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

G. Montalescot, P. Kamoun, B. Chadefaux-Vekemans, 1998, Journal of Inherited Metabolic Disease.

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

J. Oury, D. Rabier, P. Parvy, 1996, Prenatal Diagnosis.

Rapid determination of total homocysteine in plasma.

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

Altered Gene Expression in Liver from a Murine Model of Hyperhomocysteinemia*

K. Robert, N. Janel, N. Maeda, 2003, Journal of Biological Chemistry.

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

A Vassault, A. Munnich, P. Rustin, 1992, The Journal of pediatrics.

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

P. Kamoun, B. Chadefaux-Vekemans, M. Coudé, 1998, Journal of Inherited Metabolic Disease.

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

A. Munnich, J. Steffann, B. Chadefaux-Vekemans, 2009, Human mutation.

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

P. Kamoun, B. Chadefaux-Vekemans, B. Aral, 1997, Human mutation.