Publications by authors named "Peter Burgard"

68Publications

A holistic approach to the patients/ Families with inborn errors of metabolism.

Authors:
Peter Burgard

J Mother Child 2020 Oct 2;24(2):65-72. Epub 2020 Oct 2.

Department of General Pediatrics, Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.34763/jmotherandchild.20202402si.2004.000010DOI Listing
October 2020

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.

Pediatrics 2020 11 13;146(5). Epub 2020 Oct 13.

Division of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1542/peds.2020-0444DOI Listing
November 2020

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders.

Orphanet J Rare Dis 2019 04 8;14(1):80. Epub 2019 Apr 8.

Center for Child and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1186/s13023-019-1055-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454767PMC
April 2019

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Mol Genet Metab 2019 04 25;126(4):397-405. Epub 2019 Feb 25.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.02.003DOI Listing
April 2019

On being an editor, reviewer, and author-different sides of the same coin.

J Inherit Metab Dis 2019 01;42(1):1-2

Center for Paediatric and Adolescent Medicine, University Hospital of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/jimd.12017DOI Listing
January 2019

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

J Inherit Metab Dis 2019 11 27;42(6):1162-1175. Epub 2019 Feb 27.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12066DOI Listing
November 2019

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

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.

J Inherit Metab Dis 2019 03 22;42(2):243-253. Epub 2019 Jan 22.

Division of Neuropaediatrics and Inherited Metabolic Diseases, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/jimd.12013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439789PMC
March 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

Biochemical markers and neuropsychological functioning in distal urea cycle disorders.

J Inherit Metab Dis 2018 07 8;41(4):657-667. Epub 2018 Feb 8.

Children's Hospital of Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1007/s10545-017-0132-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6041144PMC
July 2018

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

Authors:
Rhea van den Bruck Patrick P Weil Thomas Ziegenhals Philipp Schreiner Stefan Juranek Daniel Gödde Silvia Vogel Frauke Schuster Valerie Orth Johannes Dörner Daniel Pembaur Meike Röper Stefan Störkel Hubert Zirngibl Stefan Wirth Andreas C W Jenke Jan Postberg Nikolas Boy Jana Heringer Gisela Haege Esther M Glahn Georg F Hoffmann Sven F Garbade Peter Burgard Stefan Kölker Cho-Ming Chao Faady Yahya Alena Moiseenko Amit Shrestha Negah Ahmadvand Jennifer Quantius Jochen Wilhelm Elie El-Agha Klaus-Peter Zimmer Saverio Bellusci Christian Staufner Stefan Kölker Holger Prokisch Georg F Hoffmann Stephan Seeliger Matthias Müller Andreas Hippe Henrik Steinkraus Roland Wauer Burkhard Lachmann Sigrun R Hofmann Christian M Hedrich Jakob Zierk Farhad Arzideh Rainer Haeckel Wolfgang Rascher Manfred Rauh Markus Metzler Sebastian Thieme Joanna Bandoła Cornelia Richter Martin Ryser Arshad Jamal Michelle P Ashton Malte von Bonin Matthias Kuhn Christian M Hedrich Ezio Bonifacio Reinhard Berner Sebastian Brenner Johanna Hammersen Cristina Has Nora Naumann-Bartsch Daniel Stachel Dimitra Kiritsi Stephan Söder Mathilde Tardieu Markus Metzler Leena Bruckner-Tuderman Holm Schneider F Bohne D Langer R Cencic T Eggermann U Zechner J Pelletier F Zepp T Enklaar D Prawitt Martin Pech Markus Weckmann Femke-Anouska Heinsen Andre Franke Christine Happle Anna-Maria Dittrich Gesine Hansen Oliver Fuchs Erika von Mutius Brian G Oliver Matthias V Kopp Claudia Paret Alexandra Russo Johanna Theruvath Bettina Keller Khalifa El Malki Nadine Lehmann Arthur Wingerter Marie A Neu Gerhold-Ay Aslihan Wolfgang Wagner Clemens Sommer Torsten Pietsch Larissa Seidmann Jörg Faber Felix Schreiner Merle Ackermann Michael Michalik Eva Rother Andras Bilkei-Gorzo Ildiko Racz Laura Bindila Beat Lutz Jörg Dötsch Andreas Zimmer Joachim Woelfle Hendrik S Fischer Tim L Ullrich Christoph Bührer Christoph Czernik Gerd Schmalisch Robert Stein Sigrun R Hofmann Judith Hagenbuchner Ursula Kiechl-Kohlendorfer Petra Obexer Michael J Ausserlechner Niki T Loges Adrien Tobias Frommer Julia Wallmeier Heymut Omran Soner Öner-Sieben Martina Gimpfl Jan Rozman Martin Irmler Johannes Beckers Martin Hrabe De Angelis Adelbert Roscher Eckhard Wolf Regina Ensenauer Karolina Nemes Michael Frühwald Martin Hasselblatt Reiner Siebert Uwe Kordes Marcel Kool Haicui Wang Holly Hardy Osama Refai Katy E S Barwick Holly H Zimmerman Joachim Weis Emma L Baple Andrew H Crosby Sebahattin Cirak C Hellmuth O Uhl M Standl J Heinrich E Thiering B Koletzko Lena Blümel Kornelius Kerl Daniel Picard Michael C Frühwald Max C Liebau Guido Reifenberger Arndt Borkhardt Martin Hasselblatt Marc Remke D Tews M Wabitsch P Fischer-Posovszky Mike-Andrew Westhoff Lisa Nonnenmacher Julia Langhans Lukas Schneele Nancy Trenkler Klaus-Michael Debatin

Mol Cell Pediatr 2017 May;4(Suppl 1)

Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.

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http://dx.doi.org/10.1186/s40348-017-0071-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435609PMC
May 2017

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

J Inherit Metab Dis 2017 01 16;40(1):75-101. Epub 2016 Nov 16.

Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10545-016-9999-9
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http://dx.doi.org/10.1007/s10545-016-9999-9DOI Listing
January 2017

Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.

JIMD Rep 2017 26;32:105-115. Epub 2016 Jun 26.

Division of Neuropediatrics and Inherited Metabolic Diseases, Department of General Pediatrics, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/8904_2016_537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362556PMC
June 2016

Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria.

Prostaglandins Leukot Essent Fatty Acids 2016 06 26;109:52-7. Epub 2016 Apr 26.

Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.plefa.2016.04.005DOI Listing
June 2016

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.

Orphanet J Rare Dis 2015 Dec 22;10:163. Epub 2015 Dec 22.

Department of General Paediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1186/s13023-015-0379-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689061PMC
December 2015

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.

J Inherit Metab Dis 2016 Mar 3;39(2):219-29. Epub 2015 Dec 3.

Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9901-1DOI Listing
March 2016

In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

Mol Genet Metab 2016 Jan 14;117(1):19-26. Epub 2015 Nov 14.

Division of Neuropediatrics and Pediatric Metabolic Medicine, University Children's Hospital Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.11.007DOI Listing
January 2016

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.

J Inherit Metab Dis 2016 Mar 27;39(2):231-41. Epub 2015 Aug 27.

Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9887-8DOI Listing
March 2016

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.

JIMD Rep 2015 5;23:101-12. Epub 2015 May 5.

Department of General Paediatrics, Division for Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://dx.doi.org/10.1007/8904_2015_439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484909PMC
June 2015

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

JIMD Rep 2015 22;22:29-38. Epub 2015 Feb 22.

Division of Inherited Metabolic Diseases, Department of General Pediatrics, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://link.springer.com/10.1007/8904_2015_408
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http://dx.doi.org/10.1007/8904_2015_408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486274PMC
July 2015

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.

Biochim Biophys Acta 2015 May 2;1852(5):768-77. Epub 2015 Jan 2.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, D-69120 Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.12.022DOI Listing
May 2015

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.

J Inherit Metab Dis 2014 Sep 9;37(5):763-73. Epub 2014 May 9.

SFG: Faculty of Applied Psychology, SRH University of Applied Sciences, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-014-9676-9DOI Listing
September 2014

Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.

Gene 2014 Mar 15;538(1):188-94. Epub 2014 Jan 15.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.01.019DOI Listing
March 2014

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.

Orphanet J Rare Dis 2013 Oct 17;8:167. Epub 2013 Oct 17.

Department of General Paediatrics, Division of Inherited Metabolic Diseases, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg 69120, Germany.

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http://dx.doi.org/10.1186/1750-1172-8-167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015693PMC
October 2013

Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life.

J Inherit Metab Dis 2014 Mar 16;37(2):189-95. Epub 2013 Aug 16.

Department of General Paediatrics, Division of Metabolic Disorders, Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://dx.doi.org/10.1007/s10545-013-9639-6DOI Listing
March 2014

Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome.

Am J Med Genet A 2013 May 26;161A(5):1008-11. Epub 2013 Mar 26.

Division of Inborn Metabolic Diseases, Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35837DOI Listing
May 2013

Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.

J Inherit Metab Dis 2013 Jul 20;36(4):635-44. Epub 2013 Mar 20.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, Centre for Child and Adolescent Medicine, Clinic I, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-013-9600-8DOI Listing
July 2013

Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses.

Mol Genet Metab 2013 Jan 30;108(1):1-7. Epub 2012 Oct 30.

Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Department of General Paediatrics, Division of Metabolic Disorders, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2012.10.021DOI Listing
January 2013

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

J Inherit Metab Dis 2013 May 13;36(3):525-33. Epub 2012 Sep 13.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10545-012-9517-7
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http://dx.doi.org/10.1007/s10545-012-9517-7DOI Listing
May 2013

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result.

J Inherit Metab Dis 2012 Jul 3;35(4):603-11. Epub 2012 May 3.

National Institute for Public Health (RIVM), P.O. Box 1, 3720BA, Bilthoven, The Netherlands.

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http://dx.doi.org/10.1007/s10545-012-9483-0DOI Listing
July 2012

Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases.

Mol Genet Metab 2012 May 16;106(1):25-30. Epub 2012 Feb 16.

Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Consultant in Neurometabolic Hereditary Diseases at the University Hospital of Padua, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2012.02.008DOI Listing
May 2012

Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

J Inherit Metab Dis 2012 Sep 17;35(5):797-806. Epub 2012 Jan 17.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-011-9426-1DOI Listing
September 2012

Use of guidelines improves the neurological outcome in glutaric aciduria type I.

Ann Neurol 2010 Nov;68(5):743-52

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/ana.22095
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http://dx.doi.org/10.1002/ana.22095DOI Listing
November 2010

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.

J Inherit Metab Dis 2010 Dec 29;33(6):697-703. Epub 2010 Jul 29.

Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-010-9164-9DOI Listing
December 2010

The reality of dietary compliance in the management of phenylketonuria.

J Inherit Metab Dis 2010 Dec 7;33(6):665-70. Epub 2010 Apr 7.

Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.

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http://dx.doi.org/10.1007/s10545-010-9073-yDOI Listing
December 2010

Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis.

Neurosci Biobehav Rev 2009 Mar 7;33(3):414-21. Epub 2008 Nov 7.

Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S014976340800189
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http://dx.doi.org/10.1016/j.neubiorev.2008.11.001DOI Listing
March 2009

Family conditions and dietary control in IEMs.

Authors:
Peter Burgard

J Inherit Metab Dis 2007 Oct;30(5):629

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http://dx.doi.org/10.1007/s10545-007-9982-6DOI Listing
October 2007

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Pediatr Res 2007 Aug;62(2):225-30

Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1203/PDR.0b013e3180a0325fDOI Listing
August 2007

Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.

Clin Chem 2006 Jun 13;52(6):1127-37. Epub 2006 Apr 13.

Division of Metabolic Diseases, Department of General Pediatrics, University Children's Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1373/clinchem.2005.058842DOI Listing
June 2006

Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background.

Wien Klin Wochenschr 2005 Aug;117(15-16):541-7

Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Wien, Allgemeines Krankenhaus, Vienna, Austria.

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http://dx.doi.org/10.1007/s00508-005-0327-xDOI Listing
August 2005

Long-term follow-up of 114 patients with congenital hyperinsulinism.

Eur J Endocrinol 2003 Jul;149(1):43-51

Clinic of General Pediatrics, University Children's Hospital, Dusseldorf, Germany.

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http://dx.doi.org/10.1530/eje.0.1490043DOI Listing
July 2003