Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Journal of Clinical Investigation - Tập 101 Số 7 - Trang 1414-1420 - 1998
R Niehues1, Martin Hasilik, Gordon Alton, Christian Körner, M Schiebe-Sukumar, Hans‐Georg Koch, KP Zimmer, Rongrong Wu, E. Harms, Karl Reiter, Kurt Von Figura, Hudson H. Freeze, H K Harms, Thorsten Marquardt
1Klinik und Poliklinik für Kinderheilkunde, 48149 Münster, Germany.

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