Carbohydrate-Deficient Glycoprotein Syndrome Type V: Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl Glucosyltransferase von Korner, Christian, Knauer, Roland, Holzbach, Ulrike, Hanefeld, Folker, Lehle, Ludwig, Von Figura, Kurt

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Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay von Drehmann, Paul, Milanos, Sinem, Schaefer, Natascha, Kasaragod, Vikram Babu, Herterich, Sarah, Holzbach-Eberle, Ulrike, Harvey, Robert J, Villmann, Carmen

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Creatine deficiency in the brain : a new, treatable inborn error of metabolism von STÖCKLER, S, HOLZBACH, U, HANEFELD, F, MARQUARDT, I, HELMS, G, REQUART, M, HÄNICKE, W, FRAHM, J

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Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man9GlcNAcs-PP-dolichyl glucosyltransferase von Korner, Christian, Knauer, Roland, Holzbach, Ulrike, Hanefeld, Folker

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Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix von Huemer, M, Huber, W D, Schima, W, Moeslinger, D, Holzbach, U, Wevers, R, Wank, H, Stoeckler-Ipsiroglu, S

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Budd-Chiari syndrome associated with coagulation abormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix von Huemer, Martina, Huber, Wolf-Dietrich, Schima, Wolfgang, Moeslinger, Dorothea, Holzbach, Ulrike, Wevers, Ron, Wank, Hans, Stoeckler-Ipsiroglu, Sylvia

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Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl- P -Glc:Man 9 GlcNAc 2 - PP -dolichyl glucosyltransferase von Körner, Christian, Knauer, Roland, Holzbach, Ulrike, Hanefeld, Folker, Lehle, Ludwig, von Figura, Kurt

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Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome von Holzbach, Ulrike, Hanefeld, Folker, Helms, Gunther, Hanicke, Wolfgang, Frahm, Jens

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Congenital Disorder of Glycosylation-Ic: Case Report and Genetic Defect von Hanefeld, F., Körner, C., Holzbach-Eberle, Ulrike, von Figura, K.

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Medikamentenabhängigkeit im Alter – Handlungsleitlinien zum pflegerischen Umgang von Holzbach, Rüdiger

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