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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report by Maxime Agranier, Florence Demurger, Christele Dubourg, Jerome Fromageot, Anne-Sophie Cabaret Dufour, Erika Launay, Magalie Gournay, Charles Lefèvre, Roseline Froissart, Magali Pettazzoni, Paul Rollier
Published 2025-01-01Get full text
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How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann–Pick disease type C from bone marrow and peripheral blood smears by Sandrine Girard, Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Thomas Boyer, Stephanie Dulucq, Valérie Gonçalves Monteiro, Nicolas Lechevalier, Marie Loosveld, Camille Lours, Caroline Mayeur‐Rousse, Mélanie Pannetier, Caroline Peillon, Maria‐Alessandra Rosenthal, Sonnthida Sep Hieng, Catherine Trichet, Lucile Baseggio, on behalf the French‐Speaking Cellular Haematology Group (GFHC)
Published 2024-11-01Get full text
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