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Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
Authors:J Jaeken  G Matthijs  J M Saudubray  C Dionisi-Vici  E Bertini  P de Lonlay  H Henri  H Carchon  E Schollen  and E Van Schaftingen
Institution:1Department of Pediatrics, University of Leuven, Leuven;2Center for Human Genetics, University of Leuven, Leuven;3Clinique de Génétique Médicale, Hôpital des Enfants Malades, Paris;4Department of Metabolism, “Bambino Gesù” Hospital, Rome;5Department of Neuropediatrics, “Bambino Gesù” Hospital, Rome;6Department of Laboratoire Central de Chimie Clinique, Centre Hospitalier Universitaire Vaudois, Lausanne;7Department of Laboratory of Physiological Chemistry, International Institute of Cellular and Molecular Pathology, University of Louvain, Brussels
Abstract:
Keywords:Author Keywords: Carbohydrate-deficient glycoprotein syndrome type IB  hepatic-intestinal presentation  phosphomannose isomerase  Carbohydrate-deficient glycoprotein syndrome type IB  Hepatic-intestinal presentation  Phosphomannose isomerase  Genetic diseases
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