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M Mathieu

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Priscille Divry; Christine Vianey-Saban; M Mathieu
Determination of total fatty acids in plasma: cis-5-tetradecenoic acid (C14:1 omega-9) in the diagnosis of long-chain fatty acid oxidation defects.
Christine Vianey-Saban; Priscille Divry; Michèle Brivet; M Nada; Marie-Thérèse Zabot; M Mathieu; Charles R Roe
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.
F Delolme; Christine Vianey-Saban; Nathalie Guffon; J Favre-Bonvin; P Guibaud; M Becchi; M Mathieu; Priscille Divry
[Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases].

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All Publications

1999: Priscille Divry; Christine Vianey-Saban; M Mathieu
Determination of total fatty acids in plasma: cis-5-tetradecenoic acid (C14:1 omega-9) in the diagnosis of long-chain fatty acid oxidation defects.
Journal of inherited metabolic disease 1999;22(3):286-8.
1998: Christine Vianey-Saban; Priscille Divry; Michèle Brivet; M Nada; Marie-Thérèse Zabot; M Mathieu; Charles R Roe
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.
Clinica chimica acta; international journal of clinical chemistry 1998;269(1):43-62.
1997: F Delolme; Christine Vianey-Saban; Nathalie Guffon; J Favre-Bonvin; P Guibaud; M Becchi; M Mathieu; Priscille Divry
[Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1997;4(9):819-26.
1997: Christine Vianey-Saban; Nathalie Guffon; F Delolne; P Guibaud; M Mathieu; Priscille Divry
Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry.
Journal of inherited metabolic disease 1997;20(3):411-4.
1996: F Chevalier-Porst; Dominique Bozon; A M Bonardot; N Bruni; Gilles Mithieux; M Mathieu; Irène Maire
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Journal of medical genetics 1996;33(5):358-60.
1996: M A Nada; Christine Vianey-Saban; Charles R Roe; Jia-huan Ding; M Mathieu; R S Wappner; M G Bialer; J A McGlynn; G Mandon
Prenatal diagnosis of mitochondrial fatty acid oxidation defects.
Prenatal diagnosis 1996;16(2):117-24.
1996: J M Parnet; Priscille Divry; Christine Vianey-Saban; M Mathieu
Stable-isotope selected-ion monitoring quantification of methylmalonic acid in dried filter-paper urine samples.
Journal of inherited metabolic disease 1996;19(5):635-7.
1995: Roseline Froissart; G Millat; M Mathieu; Dominique Bozon; Irène Maire
Processing of iduronate 2-sulphatase in human fibroblasts.
The Biochemical journal 1995;309 ( Pt 2)():425-30.
1995: B Mousson; J M Collombet; R Dumoulin; H Carrier; Frédéric Flocard; M Bouzidi; Catherine Godinot; Irène Maire; M Mathieu; S Quard
An abnormal exercise test response revealing a respiratory chain complex III deficiency.
Acta neurologica Scandinavica 1995;91(6):488-93.
1995: T Ville-Ferlin; R Dumoulin; Georges Stepien; V Matha; B Bady; Frédéric Flocard; H Carrier; M Mathieu; B Mousson
Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia.
Molecular and cellular probes 1995;9(3):207-14.
1995: Nathalie Guffon; G Souillet; Irène Maire; C Dorche; M Mathieu; P Guibaud
Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation.
Journal of inherited metabolic disease 1995;18(2):159-61.
1995: Christine Vianey-Saban; N Stremler; Olivier Paut; T Buttin; Priscille Divry; Marie-Therese Zabot; Jean Camboulives; M Mathieu; B Mousson
Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset.
Journal of inherited metabolic disease 1995;18(3):362-3.
1994: F Chevalier-Porst; A M Bonardot; R Gilly; J P Chazalette; M Mathieu; Dominique Bozon
Mutation analysis in 600 French cystic fibrosis patients.
Journal of medical genetics 1994;31(7):541-4.
1994: M O Rolland; Ginette Mandon; A Bernard; M T Zabot; M Mathieu
Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts.
Journal of inherited metabolic disease 1994;17(6):748.
1993: M Piraud; S Boyer; M Mathieu; Irène Maire
Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples.
Clinica chimica acta; international journal of clinical chemistry 1993;221(1-2):171-81.
1993: M O Rolland; Ginette Mandon; M Mathieu
First-trimester prenatal diagnosis of non-ketotic hyperglycinaemia by a micro assay of glycine cleavage enzyme.
Prenatal diagnosis 1993;13(8):771-2.
1993: F Chevalier-Porst; M Mathieu; Dominique Bozon
Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8.
Human molecular genetics 1993;2(7):1071-2.
1993: Christine Vianey-Saban; B Mousson; C Bertrand; D Stamm; R Dumoulin; Marie-Therese Zabot; Priscille Divry; D Floret; M Mathieu
Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia.
European journal of pediatrics 1993;152(4):334-8.
1993: C Bertrand; C Largillière; Marie-Therese Zabot; M Mathieu; Christine Vianey-Saban
Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.
Biochimica et biophysica acta 1993;1180(3):327-9.
1993: M Piraud; Irène Maire; M Mathieu
Pitfalls of screening for mucopolysaccharidoses by the dimethylmethylene blue test.
Clinical chemistry 1993;39(1):163-4.
1993: J M Collombet; Marie-Therese Zabot; M Vidailhet; Irène Maire; B Echenne; J Floquet; R Dumoulin; M Rimoldi; M Mathieu; B Mousson
[Value of skin fibroblasts in culture for the diagnosis of mitochondrial cell dysfunction. Apropos of 5 cases with cytochrome c oxidase deficiency].
Pédiatrie 1993;48(4):287-95.
1993: Roseline Froissart; J L Blond; Irène Maire; P Guibaud; J J Hopwood; M Mathieu; Dominique Bozon
Hunter syndrome: gene deletions and rearrangements.
Human mutation 1993;2(2):138-40.
1993: Nathalie Guffon; C Lopez-Mediavilla; R Dumoulin; B Mousson; Catherine Godinot; H Carrier; J M Collombet; Priscille Divry; M Mathieu; P Guibaud
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case.
Journal of inherited metabolic disease 1993;16(5):821-30.
1993: Irène Maire; S Epelbaum; M Piraud; Ginette Mandon; R Dumoulin; M Mathieu
Second trimester prenatal diagnosis of Sanfilippo syndrome type C.
Journal of inherited metabolic disease 1993;16(3):584-6.
1993: M O Rolland; Priscille Divry; Ginette Mandon; JM Thoulon; A Fiumara; M Mathieu
First-trimester prenatal diagnosis of Canavan disease.
Journal of inherited metabolic disease 1993;16(3):581-3.
1993: R Dumoulin; Ginette Mandon; J M Collombet; J L Blond; H Carrier; Catherine Godinot; Frédéric Flocard; J Villard; P Guibaud; M Mathieu
Human cultured myoblasts: a model for the diagnosis of mitochondrial diseases.
Journal of inherited metabolic disease 1993;16(3):545-7.
1992: F Chevalier-Porst; Jean-Claude Chomel; D Hillaire; Alain Kitzis; Jean-Claude Kaplan; R Goutaland; M Mathieu; Dominique Bozon
A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island.
Human molecular genetics 1992;1(8):647-8.
1992: C Bertrand; R Dumoulin; Priscille Divry; M Mathieu; Christine Vianey-Saban
Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts.
Clinica chimica acta; international journal of clinical chemistry 1992;210(1-2):75-91.
1991: R Dumoulin; Priscille Divry; Ginette Mandon; M Mathieu
A new case of prenatal diagnosis of isovaleric acidaemia.
Prenatal diagnosis 1991;11(12):921-2.
1991: Irène Maire; C Baussan; Nicole Moatti; M Mathieu; A Lemonnier
Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience.
Clinical biochemistry 1991;24(2):169-78.
1991: Priscille Divry; C Vianey-Liaud; M Mathieu
[Inborn errors of lysine metabolism].
Annales de biologie clinique 1991;49(1):27-35.
1991: C Vianey-Liaud; Priscille Divry; C Poinas; M Mathieu
[Lysine metabolism in man].
Annales de biologie clinique 1991;49(1):18-26.
1990: C Bory; Roselyne Boulieu; G Souillet; C Chantin; M O Rolland; M Mathieu; M Hershfield
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.
Pediatric research 1990;28(2):127-30.
1990: C Bory; Roselyne Boulieu; C Chantin; M Mathieu
Diagnosis of alcaptonuria: rapid analysis of homogentisic acid by HPLC.
Clinica chimica acta; international journal of clinical chemistry 1990;189(1):7-11.
1990: M O Rolland; Priscille Divry; Ginette Mandon; P Guibaud; M Mathieu; G Sournies; JM Thoulon
Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.
Journal of inherited metabolic disease 1990;13(3):345-8.
1990: C Bory; Roselyne Boulieu; G Souillet; C Chantin; M O Rolland; M Mathieu
Effect of red cell transfusions on clinical, immunological and biochemical parameters of a child with adenosine deaminase deficiency.
Journal of inherited metabolic disease 1990;13(2):229-30.
1989: C Bory; Roselyne Boulieu; C Chantin; M Mathieu
Homogentisic acid determined in biological fluids by HPLC.
Clinical chemistry 1989;35(2):321-2.
1989: P Veyron; R el Habib; M T Zabot; Irène Maire; M Mathieu; Jean-Louis Touraine
[Lysosomal enzyme deficiency: in vitro correlation of deficient cells using a conditioned medium or by co-culturing with non-deficient cells].
Pathologie-biologie 1989;37(1):35-8.
1989: C Flandrois; C Lahet; Delphine Feldmann; Irène Maire; P Aymard; M Mathieu
[Optimization of the determination in urine of alanine aminopeptidase, gamma-glutamyltransferase and N acetyl-beta-D-glucosaminidase].
Annales de biologie clinique 1989;47(5):252-60.
1989: P Guibaud; M Auvinet; Dominique Bozon; Irène Maire; V Chambon; F Chevallier; M Mathieu; J André; M P Cordier-Alex; J P Chazalette
[Contribution of molecular biology to the prevention of cystic fibrosis. Experience in Lyon].
Journal de génétique humaine 1989;37(1):43-9.
1989: Irène Maire; Ginette Mandon; M Mathieu
First trimester prenatal diagnosis of glycogen storage disease type III.
Journal of inherited metabolic disease 1989;12 Suppl 2():292-4.
1989: Ginette Mandon; M Mathieu
15 years of prenatal diagnosis of inherited metabolic diseases: the Lyon experience.
Journal of inherited metabolic disease 1989;12 Suppl 2():257-9.
1988: Priscille Divry; Irène Maire; M Mathieu
[Biological diagnosis of hereditary metabolic diseases. From selective screening to the mutant-cell bank].
Annales de biologie clinique 1988;46(6):381-6.
1987: C Vianey-Liaud; Priscille Divry; N Gregersen; M Mathieu
The inborn errors of mitochondrial fatty acid oxidation.
Journal of inherited metabolic disease 1987;10 Suppl 1():159-200.
1986: C Lahet; A Vialle; Irène Maire; B Parrin; J P Steghens; M Mathieu
Creatine kinase: reassessment of optimal concentrations for adenosine-5'-diphosphate and magnesium.
Clinical chemistry 1986;32(2):271-4.
1986: C Flandrois; B Gravagna; Irène Maire; M Mathieu
[Enzymuria].
Annales de biologie clinique 1986;44(5):486-90.
1980: Irène Maire; Ginette Mandon; M T Zabot; M Mathieu; P Guibaud
Beta-glucuronidase deficiency: enzyme studies in an affected family and prenatal diagnosis.
Journal of inherited metabolic disease 1980;2(2):29-34.