Search Results - "Cosson, M.A."

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    Long-term outcome in methylmalonic aciduria: A series of 30 French patients by Cosson, M.A., Benoist, J.F., Touati, G., Déchaux, M., Royer, N., Grandin, L., Jais, J.P., Boddaert, N., Barbier, V., Desguerre, I., Campeau, P.M., Rabier, D., Valayannopoulos, V., Niaudet, P., de Lonlay, P.

    Published in Molecular genetics and metabolism (01-07-2009)
    “…To better delineate the natural history of patients with methylmalonic aciduria (MMA). Thirty patients with vitamin-B 12-unresponsive MMA (25 aged 1.5 to 22.0…”
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    Journal Article
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    Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria by Cosson, M.A., Touati, G., Lacaille, F., Valayannnopoulos, V., Guyot, C., Guest, G., Verkarre, V., Chrétien, D., Rabier, D., Munnich, A., Benoist, J.F., de Keyzer, Y., Niaudet, P., de Lonlay, P.

    Published in Molecular genetics and metabolism (01-09-2008)
    “…A boy who was diagnosed with methylmalonic aciduria (MMA) at the age of 10 days developed persistent hepatomegaly and raised transaminases from the age of 4…”
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    Journal Article
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