Détermination d'activité de l'alanine aminotransférase (ALT)MAIRE, I.Revue française de transfusion et d'hémobiologie. 1990, Vol 33, Num 2, pp 101-109, issn 1140-4639Article

Les oligosaccharidoses = OligosaccharidosisMAIRE, I.MHA (Sousse). 1993, Vol 5, Num 12, pp 16-19, issn 0330-8030Conference Paper

COMBINED DEFICIENCY OF BETA -GALACTOSIDASE AND NEURAMINIDASE: THREE AFFECTED SIBLINGS IN A FRENCH FAMILYMAIRE I; NIVELON CHEVALLIER A.1981; J. INHERIT. METAB. DIS.; ISSN 0141-8955; GBR; DA. 1981; VOL. 4; NO 4; PP. 221-223; BIBL. 13 REF.Article

LE DIAGNOSTIC PRENATAL DES MALADIES METABOLIQUES.MATHIEU M; ZABOT MT; MAIRE I et al.1977; LYON PHARM.; FR.; DA. 1977; VOL. 28; NO 6; PP. 443-446; ABS. ANGL.; BIBL. 7 REF.Article

ERYTHROCYTE GHOST (NA⁺+K⁺)ATPASE ACTIVITY IN MICE WITH HEREDITARY MUSCULAR DYSTROPY (STRAIN C 57 BL 6J/DY).SOUWEINE G; ROLLAND MO; MAIRE I et al.1978; J. NEUROL.; GERM.; DA. 1978; VOL. 217; NO 3; PP. 183-189; ABS. ALLEM.; BIBL. 2 P.Article

Human placenta: a convenient source of homologous material, for diagnosis and therapy of inborn errors of metabolismMATHIEU, M; MAIRE, I.Journal of inherited metabolic disease. 1984, Vol 7, Num 4, pp 175-178, issn 0141-8955Article

Possible diagnosis of type 1b glycogen storage disease using frozen liver biopsiesMAIRE, I; MATHIEU, M.Journal of inherited metabolic disease. 1990, Vol 13, Num 3, pp 250-251, issn 0141-8955, 2 p.Article

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe diseaseLAFORET, P; PETIOT, P; HADRANE, L et al.Neurology. 2008, Vol 70, Num 22, pp 2063-2066, issn 0028-3878, 4 p., 1Article

La spectrométrie de masse en tandem appliquée au dépistage néonatal des maladies héréditaires du métabolisme : le point sur les utilisations actuelles = Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developmentsCHEILLAN, D; COGNAT, S; VIANEY-SABAN, C et al.Annales de biologie clinique (Paris). 2004, Vol 62, Num 3, pp 269-277, issn 0003-3898, 9 p.Article

Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasiaMORNET, E; MULLER, F; NGO, S et al.Prenatal diagnosis. 1999, Vol 19, Num 8, pp 755-757, issn 0197-3851Article

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patientsFROISSART, R; MAIRE, I; MILLAT, G et al.Clinical genetics. 1998, Vol 53, Num 5, pp 362-368, issn 0009-9163Article

Diagnostic des maladies de surcharge lysosomiale à révélation fœtale = Diagnosis of lysosomal storage diseases with fetal presentationBOUVIER, R; MAIRE, I.Annales de pathologie (Paris). 1997, Vol 17, Num 4, pp 277-280, issn 0242-6498Article

Usefulness of reference materials in calibration of enzyme activitiesLESSINGER, J.-M; FERARD, G; GRAFMEYER, D et al.European journal of clinical chemistry and clinical biochemistry. 1995, Vol 33, Num 11, pp 859-864, issn 0939-4974Article

Une autre étiologie de la claudication intermittente des mâchoires la maladie de Mac Ardle (glycogénose musculaire de type V) = Another etiology of intermittent claudication of the jaw: McArdle's disease (type 5 glycogenosis)DUPOND, J. L; MAIRE, I; DE WAZIERES, B et al.Annales de médecine interne (Paris). 1991, Vol 142, Num 7, pp 556-557, issn 0003-410XArticle

Les méthodes de mesure des isoenzymes de la créatine kinase (ISO CK) en chimie clinique : revue générale. Commission Enzymologie. Document J, stade 2, version 2, septembre 1984STEGHENS, J.P; MAIRE, I.Information scientifique du biologiste. 1984, Vol 10, Num 6, pp 384-399, issn 0337-2723Article

Rôle d'un laboratoire de biochimie pédiatrique dans la préventionBALTASSAT, P; DIVRY, P; DORCHE, C et al.Gestions hospitalières. 1984, Num 237, pp 477-482, issn 0016-9218Article

Human placenta as a convenient source of creatine kinase BBSTEGHENS, J. P; MAIRE, I; MATHIEU, M et al.Clinical chemistry (Baltimore, Md.). 1983, Vol 29, Num 8, pp 1537-1539, issn 0009-9147Article

Prenatal diagnosis of the Hurler syndrome by microsatellite markers analysisCHKIOUA, L; FERCHICHI, S; KHEDHIRI, S et al.Immuno analyse & biologie spécialisée. 2010, Vol 25, Num 1, pp 38-42, issn 0923-2532, 5 p.Article

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathyCANTER, C; ROLLAND, M. O; CHEILLAN, D et al.Journal of inherited metabolic disease. 2006, Vol 29, Num 1, pp 135-142, issn 0141-8955, 8 p.Article

Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH geneBEKRI, S; ARMANA, G; DE RICAUD, D et al.Journal of inherited metabolic disease. 2005, Vol 28, Num 4, pp 601-602, issn 0141-8955, 2 p.Article

Mutations in the testis/liver isoform of the phosphorylase kinase γ subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humansMAICHELE, A. J; BURWINKEL, B; MAIRE, I et al.Nature genetics. 1996, Vol 14, Num 3, pp 337-340, issn 1061-4036Article

Juvenile metachromatic leukodystrophy : neurological outcome two years after bone marrow trnsplantationGUFFON, N; SOUILLET, G; MAIRE, I et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 2, pp 159-161, issn 0141-8955Article

An abnormal exercise test response revealing a respiratory chain complex III deficiencyMOUSSON, B; COLLOMBET, J. M; DUMOULIN, R et al.Acta neurologica scandinavica. 1995, Vol 91, Num 6, pp 488-493, issn 0001-6314Article

Second trimester prenatal diagnosis of Sanfilippo syndromes type CMAIRE, I; EPELBAUM, S; PIRAUD, M et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 3, pp 584-586, issn 0141-8955Article

Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiencyCARRIER, H; MAIRE, I; VIAL, C et al.Acta neuropathologica. 1990, Vol 81, Num 1, pp 84-88, issn 0001-6322, 5 p.Article