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author = "Roscher, Adelbert A."
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Found 5 documents, displaying page 1 of 1

Rapid and Simple Diagnosis of the Two Common α1-Proteinase Inhibitor Deficiency Alleles Pi*Z and Pi*S by DNA Analysis

Author(s) : Braun, Andreas , Meyer, Peter , Cleve †, Hartwig , Roscher, Adelbert A.
Description :
Repository : Humboldt University of Berlin, GERMANY, Document Server
Language(s) : Undetermined

Determination of Total Homocysteine in Human Plasma by Isocratic High-Performance Liquid Chromatography

Author(s) : Feussner, Andrea , Rolinski, Boris , Weiss, Norbert , Deufel, Thomas , Wolfram, Günther , Roscher, Adelbert A.
Description :
Repository : Humboldt University of Berlin, GERMANY, Document Server
Language(s) : Undetermined

Defective Peroxisome Membrane Synthesis Due To Mutations in Human PEX3 Causes Zellweger Syndrome, Complementation Group G

Author(s) : Muntau, Ania C. , Mayerhofer, Peter U. , Paton, Barbara C. , Kammerer, Stefan , Roscher, Adelbert A.
Description : Zellweger cerebro-hepato-renal syndrome is a severe congenital disorder associated with defective peroxisomal biogenesis. At least 23 PEX genes have been reported to be essential for peroxisome biogenesis in various species, indicating the complexity of peroxisomal assembly. Cells from patients with...
Repository : Europe PubMed Central
Language(s) : English

Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability

Author(s) : Gersting, Søren W. , Kemter, Kristina F. , Staudigl, Michael , Messing, Dunja D. , Danecka, Marta K. , Lagler, Florian B.
Description : A significant share of patients with phenylalanine hydroxylase (PAH) deficiency benefits from pharmacological doses of tetrahydrobiopterin (BH4), the natural PAH cofactor. Phenylketonuria (PKU) is hypothesized to be a conformational disease, with loss of function due to protein destabilization, and ...
Repository : Europe PubMed Central
Language(s) : English

Mutations in the Proenteropeptidase Gene Are the Molecular Cause of Congenital Enteropeptidase Deficiency

Author(s) : Holzinger, Andreas , Maier, Esther M. , Bück, Cornelius , Mayerhofer, Peter U. , Kappler, Matthias , Haworth, James C.
Description : Enteropeptidase (enterokinase [E.C.3.4.21.9]) is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which, in turn, releases active digestive enzymes from their inactive pancreatic precursors. Congenital enteropeptidas...
Repository : Europe PubMed Central
Language(s) : English
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Found 5 documents, displaying page 1 of 1