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    Reference Work Entry In depth

    Phenylketonuria

    … in Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine (2006)

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    Article

    Wolfram Henn (2004) Warum Frauen nicht schwach, Schwarze nicht dumm und Behinderte nicht arm dran sind. Der Mythos von den guten Genen

    Ulrich Langenbeck in Ethik in der Medizin (2005)

  3. Article

    Genetic testing

    Ulrich Langenbeck in Nature (1993)

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  4. Article

    Oral L-Alloisoleucine Loading Studies in Healthy Subjects and in Patients with Maple Syrup Urine Disease

    ABSTRACT: Total body and renal elimination of L-allo-isoleucine was assessed after oral loads (0.57 mmol/kg body wt) in four healthy subjects and in five patients with maple syrup urine disease (MSUD) of diffe...

    Peter Schadewaldt, Christian Dalle-Feste, Ulrich Langenbeck… in Pediatric Research (1991)

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  5. Article

    Interrelation between the Metabolism of L-Isoleucine and L-Allo-Isoleucine in Patients with Maple Syrup Urine Disease

    ABSTRACT: The nonprotein amino acid L-allo-isoleucine is formed endogenously in maple syrup urine disease patients from (R)-3-methyl-2-oxo-pentanoic acid. During strict metabolic balance, the plasma L-allo-iso...

    Udo Wendel, Ulrich Langenbeck, James W T Seakins in Pediatric Research (1989)

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    Article

    Restriction fragment length polymorphisms at the human parathyroid hormone gene locus

    Two common Pst I and Taq I restriction enzyme fragment length polymorphisms (RFLPs) were detected at the human parathyroid hormone (PTH) gene locus. The allele frequencies in a Northern German population were ...

    Jörg Schmidtke, Bettina Pape, Ute Krengel, Ulrich Langenbeck… in Human Genetics (1984)

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    Article

    Absence of a significant renal threshold for two aromatic acids in phenylketonuric children over two years of age

    There is a steady and nonlinear relationship between the levels of both phenylpyruvic acid (PPA) and o-hydroxyphenylacetic acid (oOPAA) in urine and the plasma levels of phenylalanine (phe) in children more th...

    Ulrich Langenbeck, Abdolwahab Behbehani… in European Journal of Pediatrics (1980)

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    Article

    Blaue-Sklera-Syndrom und Keratoglobus

    Two children born on Crete of consanguinous parents presented the following manifestations of the ocular type of Ehlers-Danlos syndrome (EDS): blue sclerae, keratoglobus and rupture of cornea following minor t...

    Wolfgang Behrens-Baumann… in Albrecht von Graefes Archiv für klinische … (1977)

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    Article

    Detection of heterozygotes in maple syrup urin disease: Role of lymphocyte count

    It is reported that the enzyme activity for oxydative decarboxylation of the α-keto acis derived from the branched chain amino acids valine, leucine and isoleucine in peripheral blood is located in the lymphoc...

    H. Werner Goedde, Ulrich Langenbeck, Dieter Brackertz in Humangenetik (1968)