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Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis

Mitochondrion, 2004-06, Vol.4 (1), p.41-47

2004

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Quantification of OXPHOS Gene Transcripts during Muscle Cell Differentiation in Patients with Mitochondrial Myopathies

Experimental cell research, 1999-01, Vol.246 (1), p.91-97

1999

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Succinyl‐CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies

Journal of inherited metabolic disease, 1998-08, Vol.21 (6), p.687-688

1998

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

Prenatal diagnosis, 1993-08, Vol.13 (8), p.771-772

1993

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A new case of prenatal diagnosis of isovaleric acidaemia

Prenatal diagnosis, 1991-12, Vol.11 (12), p.921-922

1991

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15 Years of Prenatal Diagnosis of Inherited Metabolic Diseases: the Lyon Experience

Journal of inherited metabolic disease, 1989-01, Vol.12 (S2), p.257-259

1989

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Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts

Journal of inherited metabolic disease, 1994-11, Vol.17 (6), p.748-748

1994

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Second trimester prenatal diagnosis of Sanfilippo syndrome type C

Journal of inherited metabolic disease, 1993-05, Vol.16 (3), p.584-586

1993

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First Trimester Prenatal Diagnosis of Glycogen Storage Disease Type III

Journal of inherited metabolic disease, 1989-01, Vol.12 (S2), p.292-294

1989

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First‐trimester prenatal diagnosis of Canavan disease

Journal of inherited metabolic disease, 1993-05, Vol.16 (3), p.581-583

1993

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Human cultured myoblasts: A model for the diagnosis of mitochondrial diseases

Journal of inherited metabolic disease, 1993-05, Vol.16 (3), p.545-547

1993

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Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)

Clinica chimica acta, 1996-04, Vol.248 (2), p.143-155

1996

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Galactose‐1‐phosphate‐uridyl transferase activity in chorionic villi: A first trimester prenatal diagnosis of galactosaemia

Journal of inherited metabolic disease, 1986-06, Vol.9 (S2), p.284-286

1986

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Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.345-348

1990

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Prenatal Diagnosis of Cystic Fibrosis: Experience of Two Complementary Methods

Journal of inherited metabolic disease, 1989, Vol.12 (S2), p.305-307

1989

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Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material

European journal of pediatrics, 1986-04, Vol.144 (6), p.597-598

1986

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PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

Prenatal diagnosis, 1996-02, Vol.16 (2), p.117-124

1996

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Prenatal diagnosis of Niemann-Pick type C disease : current strategy from an experience of 37 pregnancies at risk

American journal of human genetics, 1992-07, Vol.51 (1), p.111-122

1992

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Hyalinose cutanéo-muqueuse. Aspects histochimiques ultrastructuraux en faveur d'une surcharge intracellulaire en glycosaminoglycannes

Annales de pathologie, 1986, Vol.6 (1), p.53-59

1986

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Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells

Journal of the neurological sciences, 1996-03, Vol.136 (1), p.178-181

1996

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Accumulation of mitochondrial DNA deletions in myotubes cultured from muscles of patients with mitochondrial myopathies

Molecular & general genetics, 1996-11, Vol.253 (1-2), p.182-188

1996

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Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies

Molecular and cellular biochemistry, 1997-03, Vol.168 (1-2), p.73-85

1997

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Les séminaires du diocèse de Périgueux au XVIIIe siècle

Annales du Midi, 1979, Vol.91 (144), p.497-500

Mandon, Guy

1979

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First-trimester prenatal diagnosis of Canavan disease: Inherited metabolic disease and the brain

Journal of inherited metabolic disease, 1993, Vol.16 (3), p.581-583

1993

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Second trimester prenatal diagnosis of Sanfilippo syndromes type C: Inherited metabolic disease and the brain

Journal of inherited metabolic disease, 1993, Vol.16 (3), p.584-586

1993

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Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis

Quantification of OXPHOS Gene Transcripts during Muscle Cell Differentiation in Patients with Mitochondrial Myopathies

Succinyl‐CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies

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

A new case of prenatal diagnosis of isovaleric acidaemia

15 Years of Prenatal Diagnosis of Inherited Metabolic Diseases: the Lyon Experience

Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts

Second trimester prenatal diagnosis of Sanfilippo syndrome type C

First Trimester Prenatal Diagnosis of Glycogen Storage Disease Type III

First‐trimester prenatal diagnosis of Canavan disease

Human cultured myoblasts: A model for the diagnosis of mitochondrial diseases

Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)

Galactose‐1‐phosphate‐uridyl transferase activity in chorionic villi: A first trimester prenatal diagnosis of galactosaemia

Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid

Prenatal Diagnosis of Cystic Fibrosis: Experience of Two Complementary Methods

Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material

PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

Prenatal diagnosis of Niemann-Pick type C disease : current strategy from an experience of 37 pregnancies at risk

Hyalinose cutanéo-muqueuse. Aspects histochimiques ultrastructuraux en faveur d'une surcharge intracellulaire en glycosaminoglycannes

Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells

Accumulation of mitochondrial DNA deletions in myotubes cultured from muscles of patients with mitochondrial myopathies

Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies

Les séminaires du diocèse de Périgueux au XVIIIe siècle

First-trimester prenatal diagnosis of Canavan disease: Inherited metabolic disease and the brain

Second trimester prenatal diagnosis of Sanfilippo syndromes type C: Inherited metabolic disease and the brain

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