Peter Bührdel
Leipzig University
7 Papers
31 Citations
Peter Bührdel is an academic researcher from Leipzig University. The author has contributed to research in topics: Hyperphenylalaninemia & Population. The author has an hindex of 4, co-authored 7 publications.
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Papers
Validation of the phenylalanine/tyrosine ratio determined by tandem mass spectrometry: sensitive newborn screening for phenylketonuria.
TL;DR: A high efficacy of the tandem mass spectrometric method for quantitative determination of phenylalanine and tyrosine from dried blood spots is demonstrated and is crucial to improve the specificity and positive predictive value for the diagnosis of classical phenylketonuria.
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Transition of young adults with phenylketonuria from pediatric to adult care
U. Mütze,Annika Roth,Johannes F. W. Weigel,Skadi Beblo,Christoph Baerwald,Peter Bührdel,Wieland Kiess +6 more
TL;DR: Transition of patients with PKU from pediatric to adult care seems to be successful in Leipzig, Germany, by analysis of the medical care, metabolic control, patients’ satisfaction, socio-economic and psychosocial status, in order to identify areas of weakness and potential improvement.
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Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations
Julia B. Hennermann,Barbara Vetter,Claudia Wolf,Elke Windt,Peter Bührdel,Jörg Seidel,Eberhard Mönch,Andreas E. Kulozik +7 more
TL;DR: The aim of this study was to establish the genotypic spectrum of PKU in eastern Germany, and to compare this to the distribution of mutations in western Germany.
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I-cell disease complicated by unusual dilatative cardiomyopathy.
TL;DR: A case of mucolipidosis type II (I-cell disease ; McKusick 25200) complicated by severe dilatative cardiomyopathy, which is very rarely described in association with this disorder, is reported.
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Tandem-Massenspektrometrie (Tandem-MS) in der pädiatrischen Stoffwechselanalytik mit einheitlichen Richtlinien für das Neugeborenenscreening in Deutschland
Peter Müller,Uta Ceglarek,Barbara Stach,Wieland Kiess,Peter Bührdel,Roland Pfäffle,Joachim Thiery +6 more
- 01 Jan 2003
TL;DR: In this paper, methodische Grundlagen der Tandem-Massenspektrometrie (Tandem-MS) and deren Anwendung in der prasymptomatischen Diagnostik are discussed.
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