M. Juge

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing.

R. Rousson, P. Louisot, M. Vanier, 1991, Biochimica et biophysica acta.

Biochemical studies in Niemann‐Pick disease. III: In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease

R. Rousson, P. Louisot, M. Vanier, 1985, Clinical genetics.

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

R. Rousson, M. Vanier, P. Pentchev, 1992, American journal of human genetics.

Prenatal Diagnosis ofNiemann-Pick TypeC Disease: Current Strategy froman Experience of37Pregnancies atRisk

R. Rousson, J. Boué, C. Dumontel, 1992 .