Second trimester prenatal diagnosis of Sanfilippo syndrome type C
Maire, I, Epelbaum, S, Piraud, M, Mandon, G, Dumoulin, R, Mathieu, M
Published in Journal of inherited metabolic disease (01.05.1993)
Published in Journal of inherited metabolic disease (01.05.1993)
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First-trimester prenatal diagnosis of Canavan disease
Rolland, M O, Divry, P, Mandon, G, Thoulon, J M, Fiumara, A, Mathieu, M
Published in Journal of inherited metabolic disease (01.05.1993)
Published in Journal of inherited metabolic disease (01.05.1993)
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Journal Article
Human cultured myoblasts: a model for the diagnosis of mitochondrial diseases
Dumoulin, R, Mandon, G, Collombet, J M, Blond, J L, Carrier, H, Godinot, C, Flocard, F, Villard, J, Guibaud, P, Mathieu, M
Published in Journal of inherited metabolic disease (01.05.1993)
Published in Journal of inherited metabolic disease (01.05.1993)
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Prenatal diagnosis of cystic fibrosis: experience of two complementary methods
Bozon, D, Maire, I, Vialle, A, Mandon, G, Guibaud, P, Gilly, R
Published in Journal of inherited metabolic disease (1989)
Published in Journal of inherited metabolic disease (1989)
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Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material
Kvittingen, E A, Guibaud, P P, Divry, P, Mandon, G, Rolland, M O, Domenichini, Y, Jakobs, C, Christensen, E
Published in European journal of pediatrics (01.04.1986)
Published in European journal of pediatrics (01.04.1986)
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PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS
NADA, MOHAMED A., VIANEY-SABAN, CHRISTINE, ROE, CHARLES R., DING, JIA-HUAN, MATHIEU, MONIQUE, WAPPNER, REBECCA S., BIALER, MARTIN G., MCGLYNN, JULIE A., MANDON, GINETTE
Published in Prenatal diagnosis (01.02.1996)
Published in Prenatal diagnosis (01.02.1996)
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Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells
Villard, Jean, Fischer, Andréas, Mandon, Ginette, Collombet, Jean Marc, Taroni, Franco, Mousson, Bénédicte
Published in Journal of the neurological sciences (01.03.1996)
Published in Journal of the neurological sciences (01.03.1996)
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Prenatal diagnosis of Niemann-Pick type C disease : current strategy from an experience of 37 pregnancies at risk
VANIER, M. T, RODRIGUEZ-LAFRASSE, C, REVOL, A, LOUISOT, P, ROUSSON, R, MANDON, G, BOUE, J, CHOISET, A, PEYRAT, M.-F, DUMONTEL, C, JUGE, M.-C, PENTCHEV, P. G
Published in American journal of human genetics (01.07.1992)
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Published in American journal of human genetics (01.07.1992)
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Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies
Collombet, J M, Faure-Vigny, H, Mandon, G, Dumoulin, R, Boissier, S, Bernard, A, Mousson, B, Stepien, G
Published in Molecular and cellular biochemistry (01.03.1997)
Published in Molecular and cellular biochemistry (01.03.1997)
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Journal Article
Diagnosis of Niemann-Pick disease type C on chorionic villus cells
Vanier, M T, Rousson, R M, Mandon, G, Choiset, A, Lake, B D, Pentchev, P G
Published in The Lancet (British edition) (06.05.1989)
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Published in The Lancet (British edition) (06.05.1989)
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