G. Mandon

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

M. T. Vanier, Claire Rodriguez‐Lafrasse, Robert Rousson et al. · PubMed · 1992 · 57 citations

Medicine, Genetics, Obstetrics +15

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

Bénédicte Mousson de Camaret, Jan‐Willem Taanman, Sylvie Padet et al. · Biochemical Journal · 2007 · 51 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

Mohamed A. Nada, Christine Vianey‐Saban, Charles R. Roe et al. · Prenatal Diagnosis · 1996 · 51 citations

Life Sciences, Biochemistry, Genetics +16

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

Monique Piraud, Roseline Froissart, G. Mandon et al. · Clinica Chimica Acta · 1996 · 35 citations

Medicine, Gynecology, Obstetrics +15

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

J Villard, Andréas Fischer, G. Mandon et al. · Journal of the Neurological Sciences · 1996 · 13 citations

Life Sciences, Biochemistry, Molecular Biology +10