V. Da Silva

Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria

Hervé Puy, Jean‐Charles Deybach, J. Lamoril et al. · The American Journal of Human Genetics · 1997 · 149 citations · Full text

Molecular Epidemiology, Genetics, Pathogenesis +5

Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France

Y Nordmann, Hervé Puy, V. Da Silva et al. · Journal of Internal Medicine · 1997 · 127 citations

Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins

V. Da Silva, Sylvie Simonin, Jean‐Charles Deybach et al. · Clinica Chimica Acta · 1995 · 58 citations

Porphyrias, Plasma Porphyrins

Neonatal Hemolytic Anemia Due to Inherited Harderoporphyria: Clinical Characteristics and Molecular Basis

J. Lamoril, Hervé Puy, Laurent Gouya et al. · Blood · 1998 · 43 citations · Full text

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update

R. Rosipal, J. Lamoril, Hervé Puy et al. · Human Mutation · 1999 · 36 citations