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M. Mathieu

The inborn errors of mitochondrial fatty acid oxidation
1987 · C. Vianey‐Liaud, P. Divry, et al. · Journal of Inherited Metabolic Disease · 145
International Federation of Clinical Chemistry, Scientific Division Committee on Enzymes: approved recommendation on IFCC methods for the measurement of catalytic concentration of enzymes. Part 7. IFCC method for creatine kinase (ATP: creatine N-phosphotransferase, EC 2.7.3.2).
1991 · M Hørder, R C Elser, et al. · PubMed · 71
Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: A study of 2,000 urine samples
1993 · M. Piraud, S. Boyer, et al. · Clinica Chimica Acta · 66
2‐Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case
1993 · N. Guffon, C. Lopez‐Mediavilla, et al. · Journal of Inherited Metabolic Disease · 46
Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry
1997 · C. Vianey‐Saban, N. Guffon, et al. · Journal of Inherited Metabolic Disease · 40
Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia
1993 · C. Vianey-Saban, B. Mousson, et al. · European Journal of Pediatrics · 40
Processing of iduronate 2-sulphatase in human fibroblasts
1995 · R Froissart, G Millat, et al. · Biochemical Journal · 33
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International Federation of Clinical Chemistry (IFCC): Scientific Division, Committee on Enzymes. IFCC methods for the measurement of catalytic concentration of enzymes. Part 7. IFCC method for creatine kinase (ATP: creatine (N‐phosphotransferase, EC 2.7.3.2). IFCC Recommendation
1990 · M. Hørder, R. C. Elser, et al. · Journal of Analytical Methods in Chemistry · 33
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Mutation analysis in 600 French cystic fibrosis patients.
1994 · F Chevalier-Porst, A M Bonardot, et al. · Journal of Medical Genetics · 32
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Pitfalls of screening for mucopolysaccharidoses by the dimethylmethylene blue test
1993 · M Piraud, I Maire, et al. · Clinical Chemistry · 25
An abnormal exercise test response revealing a respiratory chain complex III deficiency
2009 · B. Mousson, J. M. Collombet, et al. · Acta Neurologica Scandinavica · 22
Scientific division, committee on enzymes IFCC methods for the measurement of catalytic concentration of enzymes Part 7. IFCC method for creatine kinase22This paper forms part of a series of recommendations on measurements of catalytic concentrations of enzymes. Others deal with: Part 1. General conditions, [1](Approved 1979). Part 2. Method for aspartate aminotransferase, [2](Approved 1985). Part 3. Method for alanine aminotransferase, [3](Approved 1985). Part 4. Method for γ-glutamyltransferase, [4]. Part 5. Method for alkaline phosphatase, [5]. Part 6. Reference materials for enzyme measurements (Stage 1, draft 1989 — copy available from Committee Chairman). (ATP: Creatine N-phosphotransferase, EC 2.7.3.2). IFCC recommendation
1990 · M Horder, R C Elser, et al. · Clinica Chimica Acta · 22
Effect of oral administration of lipids with 67% medium chain triglycerides on glucose homeostasis in preterm neonates
1981 · L. Sann, M. Mathieu, et al. · Metabolism · 21
Comparison of Red Cell Transfusion and Polyethylene Glycol-Modified Adenosine Deaminase Therapy in an Adenosine Deaminase-Deficient Child: Measurement of Erythrocyte Deoxyadenosine Triphosphate as a Useful Tool
1990 · C Bory, R Boulieu, et al. · Pediatric Research · 19
Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation
1995 · N. Guffon, G. Souillet, et al. · Journal of Inherited Metabolic Disease · 18
A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island
1992 · F. Chevalier-Porst, J.C. Chomel, et al. · Human Molecular Genetics · 17
Homogentisic acid determined in biological fluids by HPLC.
1989 · C Bory, R Boulieu, et al. · Clinical Chemistry · 17
Aspartoacylase deficiency and N‐acetylaspartic aciduria in patients with Canavan disease
1989 · P. Divry, M. Mathieu · American Journal of Medical Genetics · 15
Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset
1995 · C. Vianey‐Saban, N. Stremler, et al. · Journal of Inherited Metabolic Disease · 12
EFFECT OF INTRAVENOUS L‐ALANINE ADMINISTRATION ON PLASMA GLUCOSE, INSULIN AND GLUCAGON, BLOOD PYRUVATE, LACTATE AND BETA‐HYDROXYBUTYRATE CONCENTRATIONS IN NEWBORN INFANTS Study in Term and Preterm Newborn Infants
1978 · L. SANN, A. RUITTON, et al. · Acta Paediatrica · 12
Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia
1995 · T. Ville-Ferlin, R. Dumoulin, et al. · Molecular and Cellular Probes · 11
PHA-induced blast colonies and kinetic parameters in acute myeloid leukemia
1982 · J.P. Marie, R. Zittoun, et al. · Leukemia Research · 11
Étude des acylcarnitines plasmatiques par spectrométrie de masse en tandem. Application au diagnostic des maladies héréditaires du métabolisme
1997 · F Delolme, C Vianey-Saban, et al. · Archives de Pédiatrie · 10
First Trimester Prenatal Diagnosis of Glycogen Storage Disease Type III
1989 · I. Maire, G. Mandon, et al. · Journal of Inherited Metabolic Disease · 9
["Enzymology" commission. Current enzymology in clinical chemistry and recommendations for the measurement of catalytic activities in the serum at 30 degrees C].
1977 · M Mathieu, J P Bretaudiere, et al. · PubMed · 9
Works count: 81
Citation count: 904
H-index: 17
I10-index: 23
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