Publications by authors named "Friedrich Trefz"

42Publications

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.

J Inherit Metab Dis 2019 05 1;42(3):398-406. Epub 2019 Feb 1.

Department of Pediatrics, Division for Neuropediatrics and Metabolic Medicine, University of Heidelberg, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/jimd.12049
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http://dx.doi.org/10.1002/jimd.12049DOI Listing
May 2019

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

Genet Med 2019 03 12;21(3):580-590. Epub 2018 Jul 12.

Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://www.nature.com/articles/s41436-018-0081-x
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http://dx.doi.org/10.1038/s41436-018-0081-xDOI Listing
March 2019

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.

Mol Genet Metab 2015 Apr 7;114(4):564-9. Epub 2015 Feb 7.

Merck Institute for Pharmacometrics, Merck Serono S.A., EPFL Innovation Park - Building I, CH-1015 Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.01.013DOI Listing
April 2015

Management of adult patients with phenylketonuria: survey results from 24 countries.

Eur J Pediatr 2015 Jan 6;174(1):119-27. Epub 2014 Dec 6.

Kreiskliniken Reutlingen GmbH, School of Medicine, Outpatient Medical Centre, University of Tuebingen, Gammertingen, Germany,

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http://dx.doi.org/10.1007/s00431-014-2458-4DOI Listing
January 2015

Is overweight an issue in phenylketonuria?

Mol Genet Metab 2013 31;110 Suppl:S18-24. Epub 2013 Aug 31.

Center of Medical Genetics Jacinto de Magalhães, CHP, EPE, Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.08.012DOI Listing
July 2014

Challenges and pitfalls in the management of phenylketonuria.

Pediatrics 2010 Aug 12;126(2):333-41. Epub 2010 Jul 12.

Service de Médecine Infantile 1, Centre de Référence des Maladies Héréditaires du Métabolisme, INSERM U 954, CHU Brabois Enfants, Vandoeuvre les Nancy, France.

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http://dx.doi.org/10.1542/peds.2009-3584DOI Listing
August 2010

Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment.

J Inherit Metab Dis 2010 Dec 9;33 Suppl 3:S163-9. Epub 2010 Mar 9.

Klinik für Kinder und Jungendmedizin, Reutlingen, Klinik am Steinenberg, Steinenbergstrasse 31, Reutlingen 72764, Germany.

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http://dx.doi.org/10.1007/s10545-010-9058-xDOI Listing
December 2010

Psychosocial issues and outcomes in maternal PKU.

Mol Genet Metab 2010 ;99 Suppl 1:S68-74

University of Southern California/Keck School of Medicine, Department of Pediatrics, Genetics Division, 2125 Ames St., Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.10.014DOI Listing
June 2010

RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases.

Hum Mutat 2010 Jan;31(1):E1081-8

Bioinformatics Department, Bielefeld University, P.O. Box 10 01 31, D-33501 Bielefeld, Germany.

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http://dx.doi.org/10.1002/humu.21169DOI Listing
January 2010

Management of phenylketonuria in Europe: survey results from 19 countries.

Mol Genet Metab 2010 Feb 13;99(2):109-15. Epub 2009 Sep 13.

University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2009.09.005DOI Listing
February 2010

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.

Mol Genet Metab 2009 Apr 8;96(4):158-63. Epub 2009 Feb 8.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2009.01.002DOI Listing
April 2009

RAMEDIS: the rare metabolic diseases database.

Appl Bioinformatics 2006 ;5(2):115-8

Bioinformatics Department, Bielefeld University, Bielefeld, and Childrens Hospital of Reutlingen, Germany.

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http://dx.doi.org/10.2165/00822942-200605020-00006DOI Listing
August 2006

Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin.

Mol Genet Metab 2005 Dec 20;86 Suppl 1:S75-80. Epub 2005 Oct 20.

Klinik fuer Kinder und Jugendmedizin Kreiskliniken Reutlingen, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2005.06.026DOI Listing
December 2005

3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy.

Ann Neurol 2004 Nov;56(5):727-30

Department of General Neurology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.

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http://dx.doi.org/10.1002/ana.20280DOI Listing
November 2004

Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.

Pediatrics 2003 Dec;112(6 Pt 2):1566-9

Klinik für Kinder und Jugendmedizin Reutlingen, School of Medicine, University of Tübingen, Reutlingen, Germany.

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December 2003

Pregnancy experiences in the woman with mild hyperphenylalaninemia.

Pediatrics 2003 Dec;112(6 Pt 2):1548-52

Division of Genetics, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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December 2003

Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.

Pediatrics 2003 Dec;112(6 Pt 2):1530-3

Department of Inherited Metabolic Disease and Molecular Genetics, The John F. Kennedy Institute, Glostrup, Denmark.

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December 2003

Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study.

Pediatrics 2003 Dec;112(6 Pt 2):1519-22

Childrens Hospital Los Angeles, Division of Medical Genetics, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California 90027, USA.

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December 2003

Supporting genotype-phenotype correlation with the rare metabolic diseases database Ramedis.

In Silico Biol 2002 ;2(3):407-14

Otto-von-Guericke University Magdeburg, Institute for Technical and Business Information Systems, Germany.

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July 2003

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.

Ann Neurol 2002 Mar;51(3):388-92

Department Neuropediatrics, Charité University Hospital, Berlin, Germany.

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http://dx.doi.org/10.1002/ana.10151DOI Listing
March 2002