Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency

Journal of Hepatology - Tập 48 - Trang 517-522 - 2008
François Feillet1, Marc Merten1, Shyue-Fang Battaglia-Hsu1, Daniel Rabier2, Keiko Kobayashi3, Jean Straczek1, Michèle Brivet4, Elisabeth Favre1, Jean-Louis Guéant1
1Centre de Référence des Maladies Héréditaires du Métabolisme et Inserm U724, CHU et Faculté de Médecine de Nancy, France
2Laboratoire de Biochimie B, Hôpital Necker Enfants Malades APHP, Paris, France
3Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
4Laboratoire de Biochimie A, Hôpital de Bicêtre APHP, Le Kremlin Bicêtre, France

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Journal of Hepatology

Tập 48

517-522

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