M. Mathieu

发表

Contribution du CNRS/IN2P3 à l'upgrade d'ATLAS. Proposition soumise au Conseil Scientifique de l'IN2P3 du 21 Juin 2012

F. Crescioli, J. Donini, D. Rousseau, 2012 .

PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

M. Bialer, C. Roe, R. Wappner, 1996, Prenatal diagnosis.

40 kilobase deletion (CF 40 kb del 4–10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene

D. Bozon, J. Chazalette, M. Mathieu, 1998, Human mutation.

Hunter syndrome: Gene deletions and rearrangements

D. Bozon, J. Blond, J. Hopwood, 1993, Human mutation.

Mutation analysis in 24 French patients with glycogen storage disease type 1a.

D. Bozon, G. Mithieux, I. Maire, 1996, Journal of medical genetics.

Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience.

N. Moatti, I. Maire, C. Baussan, 1991, Clinical biochemistry.

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.

P. Divry, C. Roe, C. Vianey‐Saban, 1998, Clinica chimica acta; international journal of clinical chemistry.

The use of peritoneoscopy in the detection of liver metastases

M. Rozencweig, H. Bleiberg, C. Gompel, 1978, Cancer.

Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples.

I. Maire, M. Piraud, M. Mathieu, 1993, Clinica chimica acta; international journal of clinical chemistry.

First‐trimester prenatal diagnosis of non‐ketotic hyperglycinaemia by a micro assay of glycine cleavage enzyme

M. Rolland, M. Mathieu, G. Mandon, 1993, Prenatal diagnosis.

Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia

P. Divry, D. Floret, M. Mathieu, 1993, European Journal of Pediatrics.