Friedrich K Trefz

Friedrich K Trefz

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Friedrich K Trefz

Friedrich K Trefz

Publications by authors named "Friedrich K Trefz"

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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

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

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

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

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

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

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

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