Martin Lindner

Martin Lindner

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Martin Lindner

Martin Lindner

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Analytical and clinical validation of a microbial cell-free DNA sequencing test for infectious disease.

Authors:
Timothy A Blauwkamp Simone Thair Michael J Rosen Lily Blair Martin S Lindner Igor D Vilfan Trupti Kawli Fred C Christians Shivkumar Venkatasubrahmanyam Gregory D Wall Anita Cheung Zoë N Rogers Galit Meshulam-Simon Liza Huijse Sanjeev Balakrishnan James V Quinn Desiree Hollemon David K Hong Marla Lay Vaughn Mickey Kertesz Sivan Bercovici Judith C Wilber Samuel Yang

Nat Microbiol 2019 04 11;4(4):663-674. Epub 2019 Feb 11.

Department of Emergency Medicine, Stanford University, Palo Alto, CA, USA.

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http://dx.doi.org/10.1038/s41564-018-0349-6DOI Listing
April 2019

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

Authors:
Ulrike Teufel Peter Burgard Jochen Meyburg Martin Lindner Johannes Poeschl Peter Ruef Georg F Hoffmann Stefan Kölker

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

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Authors:
Johannes Häberle Alberto Burlina Anupam Chakrapani Marjorie Dixon Daniela Karall Martin Lindner Hanna Mandel Diego Martinelli Guillem Pintos-Morell René Santer Anastasia Skouma Aude Servais Galit Tal Vicente Rubio Martina Huemer Carlo Dionisi-Vici

J Inherit Metab Dis 2019 Apr 14. Epub 2019 Apr 14.

Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/jimd.12100DOI Listing
April 2019

LiveKraken--real-time metagenomic classification of illumina data.

Authors:
Simon H Tausch Benjamin Strauch Andreas Andrusch Tobias P Loka Martin S Lindner Andreas Nitsche Bernhard Y Renard

Bioinformatics 2018 11;34(21):3750-3752

Bioinformatics Unit (MF1).

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https://academic.oup.com/bioinformatics/article/34/21/3750/5
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http://dx.doi.org/10.1093/bioinformatics/bty433DOI Listing
November 2018

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Authors:
Nikolas Boy Katharina Mengler Eva Thimm Katharina A Schiergens Thorsten Marquardt Natalie Weinhold Iris Marquardt Anibh M Das Peter Freisinger Sarah C Grünert Judith Vossbeck Robert Steinfeld Matthias R Baumgartner Skadi Beblo Andrea Dieckmann Andrea Näke Martin Lindner Jana Heringer Georg F Hoffmann Chris Mühlhausen Esther M Maier Regina Ensenauer Sven F Garbade Stefan Kölker

Ann Neurol 2018 05 30;83(5):970-979. Epub 2018 Apr 30.

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/10.1002/ana.25233DOI Listing
May 2018

Sustained Need for High-Dose Zinc Supplementation in Children With Acrodermatitis Enteropathica.

Authors:
Johanna Hammersen Cristina Has Matthias Galiano Martin Lindner Rainer Rossi Jürgen Kohlhase Holm Schneider

Clin Pediatr (Phila) 2018 01 5;57(1):99-102. Epub 2017 Jan 5.

1 University Hospital Erlangen, Erlangen, Germany.

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http://dx.doi.org/10.1177/0009922816685820DOI Listing
January 2018

Issues with European guidelines for phenylketonuria.

Authors:
Peter Burgard Kurt Ullrich Diana Ballhausen Julia B Hennermann Carla E M Hollak Mirjam Langeveld Daniela Karall Vassiliki Konstantopoulou Esther M Maier Frauke Lang Robin Lachmann Elaine Murphy Sven Garbade Georg F Hoffmann Stefan Kölker Martin Lindner Johannes Zschocke

Lancet Diabetes Endocrinol 2017 09;5(9):681-683

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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https://linkinghub.elsevier.com/retrieve/pii/S22138587173020
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http://dx.doi.org/10.1016/S2213-8587(17)30201-2DOI Listing
September 2017

HiLive: real-time mapping of illumina reads while sequencing.

Authors:
Martin S Lindner Benjamin Strauch Jakob M Schulze Simon H Tausch Piotr W Dabrowski Andreas Nitsche Bernhard Y Renard

Bioinformatics 2017 03;33(6):917-319

Research Group Bioinformatics (NG 4), Robert Koch Institute, Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btw659DOI Listing
March 2017

Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography.

Authors:
Daniela Choukair Carolin Kneppo Reinhard Feneberg Eckhard Schönau Martin Lindner Stefan Kölker Georg F Hoffmann Burkhard Tönshoff

J Inherit Metab Dis 2017 03 22;40(2):219-226. Epub 2016 Nov 22.

Department of Pediatrics I, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-016-0002-6DOI Listing
March 2017

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

Authors:
Carmen Diez-Fernandez Véronique Rüfenacht Saikat Santra Allan M Lund René Santer Martin Lindner Trine Tangeraas Caroline Unsinn Pascale de Lonlay Alberto Burlina Clara D M van Karnebeek Johannes Häberle

Genet Med 2016 10 25;18(10):991-1000. Epub 2016 Feb 25.

Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.

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http://dx.doi.org/10.1038/gim.2015.201DOI Listing
October 2016

DUDes: a top-down taxonomic profiler for metagenomics.

Authors:
Vitor C Piro Martin S Lindner Bernhard Y Renard

Bioinformatics 2016 08 24;32(15):2272-80. Epub 2016 Mar 24.

Research Group Bioinformatics (NG4), Robert Koch Institute, Nordufer 20, Berlin 13353, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btw150DOI Listing
August 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.

Authors:
Peter Burgard Stefan Kölker Gisela Haege Martin Lindner Georg F Hoffmann

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

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.

Authors:
Christian Staufner Martin Lindner Carlo Dionisi-Vici Peter Freisinger Dries Dobbelaere Claire Douillard Nawal Makhseed Beate K Straub Kimia Kahrizi Diana Ballhausen Giancarlo la Marca Stefan Kölker Dorothea Haas Georg F Hoffmann Sarah C Grünert Henk J Blom

J Inherit Metab Dis 2016 Mar 7;39(2):273-83. Epub 2015 Dec 7.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9904-yDOI Listing
March 2016

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.

Authors:
Joachim B Kunz Saida Awad Margit Happich Lena Muckenthaler Martin Lindner Gwendolyn Gramer Jürgen G Okun Georg F Hoffmann Thomas Bruckner Martina U Muckenthaler Andreas E Kulozik

Ann Hematol 2016 Feb 12;95(3):397-402. Epub 2015 Dec 12.

Department of Pediatric Oncology, Hematology, Oncology and Immunology, University of Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s00277-015-2573-yDOI Listing
February 2016

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

Authors:
Thomas Opladen Martin Lindner Anibh M Das Thorsten Marquardt Aneal Khan Sukru H Emre Barbara K Burton Bruce A Barshop Thea Böhm Jochen Meyburg Kathrin Zangerl Sebene Mayorandan Peter Burgard Ulrich H N Dürr Bernd Rosenkranz Jörg Rennecke Jens Derbinski Marc Yudkoff Georg F Hoffmann

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

Metagenomic profiling of known and unknown microbes with microbeGPS.

Authors:
Martin S Lindner Bernhard Y Renard

PLoS One 2015 2;10(2):e0117711. Epub 2015 Feb 2.

Research Group Bioinformatics (NG4), Robert Koch Institute, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0117711PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314203PMC
October 2015

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Authors:
Yin-Hsiu Chien Jose E Abdenur Federico Baronio Allison Anne Bannick Fernando Corrales Maria Couce Markus G Donner Can Ficicioglu Cynthia Freehauf Deborah Frithiof Garrett Gotway Koichi Hirabayashi Floris Hofstede George Hoganson Wuh-Liang Hwu Philip James Sook Kim Stanley H Korman Robin Lachmann Harvey Levy Martin Lindner Lilia Lykopoulou Ertan Mayatepek Ania Muntau Yoshiyuki Okano Kimiyo Raymond Estela Rubio-Gozalbo Sabine Scholl-Bürgi Andreas Schulze Rani Singh Sally Stabler Mary Stuy Janet Thomas Conrad Wagner William G Wilson Saskia Wortmann Shigenori Yamamoto Maryland Pao Henk J Blom

Orphanet J Rare Dis 2015 Aug 20;10:99. Epub 2015 Aug 20.

Laboratory for Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine University Hospital Freiburg, 79106, Freiburg, Germany.

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http://dx.doi.org/10.1186/s13023-015-0321-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545930PMC
August 2015

Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany.

Authors:
Olaf Sommerburg Jutta Hammermann Martin Lindner Mirjam Stahl Martina Muckenthaler Dirk Kohlmueller Margit Happich Andreas E Kulozik Marina Stopsack Manfred Gahr Georg F Hoffmann Marcus A Mall

Pediatr Pulmonol 2015 Jul 23;50(7):655-64. Epub 2015 Apr 23.

Division of Pediatric Pulmonology & Allergy and Cystic Fibrosis Center, Department of Pediatrics III, University of Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ppul.23190DOI Listing
July 2015

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

Authors:
Gwendolyn Gramer Gisela Haege Junmin Fang-Hoffmann Georg F Hoffmann Claus R Bartram Katrin Hinderhofer Peter Burgard Martin Lindner

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

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Authors:
Sabine Fischer Martina Huemer Matthias Baumgartner Federica Deodato Diana Ballhausen Avihu Boneh Alberto B Burlina Roberto Cerone Paula Garcia Gülden Gökçay Stephanie Grünewald Johannes Häberle Jaak Jaeken David Ketteridge Martin Lindner Hanna Mandel Diego Martinelli Esmeralda G Martins Karl O Schwab Sarah C Gruenert Bernd C Schwahn László Sztriha Maren Tomaske Friedrich Trefz Laura Vilarinho David S Rosenblatt Brian Fowler Carlo Dionisi-Vici

J Inherit Metab Dis 2014 Sep 6;37(5):831-40. Epub 2014 Mar 6.

University Children's Hospital Basel, Spitalstrasse 33, Basel, 4506, Switzerland.

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http://link.springer.com/content/pdf/10.1007/s10545-014-9687
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http://link.springer.com/10.1007/s10545-014-9687-6
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http://dx.doi.org/10.1007/s10545-014-9687-6DOI Listing
September 2014

Pipasic: similarity and expression correction for strain-level identification and quantification in metaproteomics.

Authors:
Anke Penzlin Martin S Lindner Joerg Doellinger Piotr Wojtek Dabrowski Andreas Nitsche Bernhard Y Renard

Bioinformatics 2014 Jun;30(12):i149-56

Research Group Bioinformatics (NG4), Centre for Biological Threats and Special Pathogens 1 (ZBS 1), Centre for Biological Threats and Special Pathogens 6 (ZBS 6) and Central Administration 4 (IT), Robert Koch Institute, 13353 Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btu267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4058918PMC
June 2014

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

Authors:
Gwendolyn Gramer Gisela Haege Esther M Glahn Georg F Hoffmann Martin Lindner Peter Burgard

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

GIIRA--RNA-Seq driven gene finding incorporating ambiguous reads.

Authors:
Franziska Zickmann Martin S Lindner Bernhard Y Renard

Bioinformatics 2014 Mar 11;30(5):606-13. Epub 2013 Oct 11.

Research Group Bioinformatics (NG4), Robert Koch-Institute, Nordufer 20, 13353 Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btt577DOI Listing
March 2014

50 years of newborn screening.

Authors:
Georg F Hoffmann Martin Lindner J Gerard Loeber

J Inherit Metab Dis 2014 Mar;37(2):163-4

Department of General Pediatrics, University of Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://dx.doi.org/10.1007/s10545-014-9688-5DOI Listing
March 2014

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.

Authors:
Martina C Cornel Tessel Rigter Stephanie S Weinreich Peter Burgard Georg F Hoffmann Martin Lindner J Gerard Loeber Kathrin Rupp Domenica Taruscio Luciano Vittozzi

Eur J Hum Genet 2014 Jan 8;22(1):12-7. Epub 2013 May 8.

National Centre for Rare Diseases, Rome, Italy.

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http://www.nature.com/doifinder/10.1038/ejhg.2013.90
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http://dx.doi.org/10.1038/ejhg.2013.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865414PMC
January 2014

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Authors:
Corinne M Rüegger Martin Lindner Diana Ballhausen Matthias R Baumgartner Skadi Beblo Anibh Das Matthias Gautschi Esther M Glahn Sarah C Grünert Julia Hennermann Michel Hochuli Martina Huemer Daniela Karall Stefan Kölker Robin H Lachmann Amelie Lotz-Havla Dorothea Möslinger Jean-Marc Nuoffer Barbara Plecko Frank Rutsch René Santer Ute Spiekerkoetter Christian Staufner Tamar Stricker Frits A Wijburg Monique Williams Peter Burgard Johannes Häberle

J Inherit Metab Dis 2014 Jan 19;37(1):21-30. Epub 2013 Jun 19.

Division of Metabolism, University Children's Hospital, Steinwiesstr. 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-013-9624-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3889631PMC
January 2014

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.

Authors:
Olaf Sommerburg Veronika Krulisova Jutta Hammermann Martin Lindner Mirjam Stahl Martina Muckenthaler Dirk Kohlmueller Margit Happich Andreas E Kulozik Felix Votava Miroslava Balascakova Veronika Skalicka Marina Stopsack Manfred Gahr Milan Macek Marcus A Mall Georg F Hoffmann

J Cyst Fibros 2014 Jan 25;13(1):15-23. Epub 2013 Jul 25.

Translational Lung Research Centre Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Im Neuenheimer Feld 350, D-69120 Heidelberg, Germany; Division of Metabolic Diseases and Newborn Screening Center, Department of Paediatrics I, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.jcf.2013.06.003DOI Listing
January 2014

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

Authors:
Johannes Pfeil Stefan Listl Georg F Hoffmann Stefan Kölker Martin Lindner Peter Burgard

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

Analyzing genome coverage profiles with applications to quality control in metagenomics.

Authors:
Martin S Lindner Maximilian Kollock Franziska Zickmann Bernhard Y Renard

Bioinformatics 2013 May 14;29(10):1260-7. Epub 2013 Apr 14.

Research Group Bioinformatics NG4, Robert Koch-Institut, 13353 Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btt147DOI Listing
May 2013

Metagenomic abundance estimation and diagnostic testing on species level.

Authors:
Martin S Lindner Bernhard Y Renard

Nucleic Acids Res 2013 Jan 31;41(1):e10. Epub 2012 Aug 31.

Research Group Bioinformatics, NG4, Robert Koch-Institut, Nordufer 20, 13353 Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gks803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3592424PMC
January 2013

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

Authors:
Gwendolyn Gramer Birgit Förl Christina Springer Petra Weimer Gisela Haege Friederike Mackensen Edith Müller Hans Eberhard Völcker Georg Friedrich Hoffmann Martin Lindner Hermann Krastel Peter Burgard

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

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.

Authors:
Sarah C Grünert Stephanie Müllerleile Linda De Silva Michael Barth Melanie Walter Kerstin Walter Thomas Meissner Martin Lindner Regina Ensenauer René Santer Olaf A Bodamer Matthias R Baumgartner Michaela Brunner-Krainz Daniela Karall Claudia Haase Ina Knerr Thorsten Marquardt Julia B Hennermann Robert Steinfeld Skadi Beblo Hans-Georg Koch Vassiliki Konstantopoulou Sabine Scholl-Bürgi Agnes van Teeffelen-Heithoff Terttu Suormala Wolfgang Sperl Jan P Kraus Andrea Superti-Furga Karl Otfried Schwab Jörn Oliver Sass

Orphanet J Rare Dis 2013 Jan 10;8. Epub 2013 Jan 10.

Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1186/1750-1172-8-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568723PMC
January 2013

Noncompaction myocardium in association with type Ib glycogen storage disease.

Authors:
Benjamin Goeppert Martin Lindner Monika Nadja Vogel Arne Warth Albrecht Stenzinger Marcus Renner Philipp Schnabel Peter Schirmacher Frank Autschbach Wilko Weichert

Pathol Res Pract 2012 Oct 31;208(10):620-2. Epub 2012 Jul 31.

Institute of Pathology, University Hospital Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.prp.2012.06.007DOI Listing
October 2012

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance.

Authors:
Peter Burgard Kathrin Rupp Martin Lindner Gisela Haege Tessel Rigter Stephanie S Weinreich J Gerard Loeber Domenica Taruscio Luciano Vittozzi Martina C Cornel Georg F Hoffmann

J Inherit Metab Dis 2012 Jul 28;35(4):613-25. Epub 2012 Apr 28.

Department of Paediatrics, University Hospital - Heidelberg (DE), Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-012-9484-zDOI Listing
July 2012

Suggested guidelines for the diagnosis and management of urea cycle disorders.

Authors:
Johannes Häberle Nathalie Boddaert Alberto Burlina Anupam Chakrapani Marjorie Dixon Martina Huemer Daniela Karall Diego Martinelli Pablo Sanjurjo Crespo René Santer Aude Servais Vassili Valayannopoulos Martin Lindner Vicente Rubio Carlo Dionisi-Vici

Orphanet J Rare Dis 2012 May 29;7:32. Epub 2012 May 29.

University Children's Hospital Zurich and Children's Research Centre, Zurich, 8032, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-7-32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488504PMC
May 2012

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Authors:
Sarah C Grünert Udo Wendel Martin Lindner Michael Leichsenring K Otfried Schwab Jerry Vockley Willy Lehnert Regina Ensenauer

Orphanet J Rare Dis 2012 Jan 25;7. Epub 2012 Jan 25.

Center for Pediatrics and Adolescent Medicine, Albert-Ludwigs-Universität Freiburg, Germany.

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http://dx.doi.org/10.1186/1750-1172-7-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3292949PMC
January 2012

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.

Authors:
Martin Lindner Gwendolyn Gramer Gisela Haege Junmin Fang-Hoffmann Karl O Schwab Uta Tacke Friedrich K Trefz Eugen Mengel Udo Wendel Michael Leichsenring Peter Burgard Georg F Hoffmann

Orphanet J Rare Dis 2011 Jun 20;6:44. Epub 2011 Jun 20.

Centre for Paediatric and Adolescent Medicine, University Heidelberg, Heidelberg, Germany.

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http://link.springer.com/content/pdf/10.1186%2F1750-1172-6-4
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http://www.ojrd.com/content/6/1/44
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http://dx.doi.org/10.1186/1750-1172-6-44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141366PMC
June 2011

SIMA: simultaneous multiple alignment of LC/MS peak lists.

Authors:
Björn Voss Michael Hanselmann Bernhard Y Renard Martin S Lindner Ullrich Köthe Marc Kirchner Fred A Hamprecht

Bioinformatics 2011 Apr 3;27(7):987-93. Epub 2011 Feb 3.

Interdisciplinary Center for Scientific Computing, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btr051DOI Listing
April 2011

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31820d5e67DOI Listing
March 2011

Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.

Authors:
Manuela Popek Melanie Walter Malkanthi Fernando Martin Lindner Karl Otfried Schwab Jörn Oliver Sass

Clin Chim Acta 2010 Dec 17;411(23-24):2087-91. Epub 2010 Sep 17.

Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.cca.2010.09.006DOI Listing
December 2010

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.

Authors:
Martin Lindner Georg F Hoffmann Dietrich Matern

J Inherit Metab Dis 2010 Oct 7;33(5):521-6. Epub 2010 Apr 7.

University Children's Hospital, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10545-010-9076-8
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http://dx.doi.org/10.1007/s10545-010-9076-8DOI Listing
October 2010

Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population.

Authors:
Olaf Sommerburg Martin Lindner Martina Muckenthaler Dirk Kohlmueller Svenja Leible Reinhard Feneberg Andreas E Kulozik Marcus A Mall Georg F Hoffmann

J Inherit Metab Dis 2010 Oct 17;33(Suppl 2):S263-71. Epub 2010 Aug 17.

Division of Paediatric Pulmonology & Allergy and Cystic Fibrosis Center, Department of Paediatrics III, University of Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-010-9174-7DOI Listing
October 2010

Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.

Authors:
Hongying Gan-Schreier Moustafa Kebbewar Junmin Fang-Hoffmann Julia Wilrich Ghassan Abdoh Tawfeg Ben-Omran Noora Shahbek Abdulbari Bener Hilal Al Rifai Abdul Latif Al Khal Martin Lindner Johannes Zschocke Georg F Hoffmann

J Pediatr 2010 Mar 14;156(3):427-32. Epub 2009 Nov 14.

Department of Pediatrics, Ruprecht-Karls-University, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2009.09.054DOI Listing
March 2010

Molecular neonatal screening for homocystinuria in the Qatari population.

Authors:
Johannes Zschocke Moustafa Kebbewar Hongying Gan-Schreier Christine Fischer Junmin Fang-Hoffmann Julia Wilrich Ghassan Abdoh Tawfeg Ben-Omran Noora Shahbek Martin Lindner Hilal Al Rifai Abdul Latif Al Khal Georg F Hoffmann

Hum Mutat 2009 Jun;30(6):1021-2

Institute of Human Genetics, Ruprecht-Karls-University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/humu.20994DOI Listing
June 2009

One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects.

Authors:
Jochen Meyburg Anibh M Das Friederike Hoerster Martin Lindner Heinz Kriegbaum Guido Engelmann Jan Schmidt Michael Ott Andrea Pettenazzo Thomas Luecke Harald Bertram Georg F Hoffmann Alberto Burlina

Transplantation 2009 Mar;87(5):636-41

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

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http://dx.doi.org/10.1097/TP.0b013e318199936aDOI Listing
March 2009

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Authors:
Marcel R Zurflüh Johannes Zschocke Martin Lindner François Feillet Céline Chery Alberto Burlina Raymond C Stevens Beat Thöny Nenad Blau

Hum Mutat 2008 Jan;29(1):167-75

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1002/humu.20637DOI Listing
January 2008

Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?

Authors:
Mahmoud F Elsaid Abdulbari Bener Martin Lindner Mahmoud Alzyoud Noora Shahbek Mohammed O Abdelrahman Ghassan Abdoh Mohammed S Bessisso Johannes Zschocke Georg F Hoffmann

Mol Genet Metab 2007 Sep-Oct;92(1-2):100-3. Epub 2007 Aug 7.

Department of Pediatrics Neurology Unit, Hamad General Hospital, Hamad Medical Corporation, Qatar, and Department of Evidence for Population Health Unit, School of Epidemiology and Health Sciences, The University of Manchester, UK.

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http://dx.doi.org/10.1016/j.ymgme.2007.06.010DOI Listing
November 2007

Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Authors:
Sirikit Ho Zoltan Lukacs Georg F Hoffmann Martin Lindner Thomas Wetter

Clin Chem 2007 Jul 18;53(7):1330-7. Epub 2007 May 18.

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

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http://dx.doi.org/10.1373/clinchem.2006.081802DOI Listing
July 2007

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

Authors:
Peter Freisinger Nancy Fütterer Erwin Lankes Klaus Gempel Thomas M Berger Johannes Spalinger Alexandra Hoerbe Claudia Schwantes Martin Lindner René Santer Martin Burdelski Hansjörg Schaefer Bernhard Setzer Ulrich A Walker Rita Horváth

Arch Neurol 2006 Aug;63(8):1129-34

Institute of Clinical Chemistry, Metabolic Disease Center Munich-Schwabing, Kölner Platz 1, 80804 Munich, Germany.

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http://dx.doi.org/10.1001/archneur.63.8.1129DOI Listing
August 2006

Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.

Authors:
Andrea Schulze-Bergkamen Jürgen G Okun Ute Spiekerkötter Martin Lindner Dorothea Haas Dirk Kohlmüller Ertan Mayatepek Henning Schulze-Bergkamen Cheryl R Greenberg Johannes Zschocke Georg F Hoffmann Stefan Kölker

Pediatr Res 2005 Nov 23;58(5):873-80. Epub 2005 Sep 23.

Department of General Pediatrics, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1203/01.PDR.0000181378.98593.3EDOI Listing
November 2005

[Cardiac insufficiency: strength for the weak heart].

Authors:
Martin Lindner

Dtsch Med Wochenschr 2005 Oct;Suppl 1:29-30

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October 2005

Herbal medicine with curcuma and fumitory in the treatment of irritable bowel syndrome: a randomized, placebo-controlled, double-blind clinical trial.

Authors:
Benno Brinkhaus Christian Hentschel Christoph Von Keudell Gernot Schindler Martin Lindner Hartmut Stützer Ralf Kohnen Stefan N Willich Walter Lehmacher Eckhart G G Hahn

Scand J Gastroenterol 2005 Aug;40(8):936-43

Institute of Social Medicine, Epidemiology, and Health Economics, Charité University Medical Center, Luisenstr. 57, DE-10098 Berlin, Germany.

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http://dx.doi.org/10.1080/00365520510023134DOI Listing
August 2005

Integration of complementary and alternative medicine into German medical school curricula -- contradictions between the opinions of decision makers and the status quo.

Authors:
Benno Brinkhaus Stefanie Joos Martin Lindner Ralf Kohnen Claudia Witt Stefan N Willich Eckhart G Hahn

Forsch Komplementarmed Klass Naturheilkd 2005 Jun 23;12(3):139-43. Epub 2005 Jun 23.

Institut für Sozialmedizin, Epidemiologie und Gesundheitsökonomie, Charité Universitätsmedizin, Berlin, Germany.

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http://dx.doi.org/10.1159/000085227DOI Listing
June 2005

Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany.

Authors:
Tanja Krones Elmar Schlüter Konstantin Manolopoulos Karin Bock Hans-Rudolf Tinneberg Manuela C Koch Martin Lindner Georg F Hoffmann Ertan Mayatepek Gerd Huels Elke Neuwohner Susan El Ansari Thomas Wissner Gerd Richter

Reprod Biomed Online 2005 Jan;10(1):116-23

Centre for Conflict Studies, University of Marburg and Bioethics-Clinical Ethics, University Hospital, Marburg, Germany.

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http://dx.doi.org/10.1016/s1472-6483(10)60812-7DOI Listing
January 2005

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.

Authors:
Georg F Hoffmann Rüdiger von Kries Daniela Klose Martin Lindner Andreas Schulze Ania C Muntau Wulf Röschinger Bernhard Liebl Ertan Mayatepek Adelbert A Roscher

Eur J Pediatr 2004 Feb 9;163(2):76-80. Epub 2004 Jan 9.

Department of Paediatrics, University of Heidelberg, Germany.

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http://link.springer.com/10.1007/s00431-003-1246-3
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http://dx.doi.org/10.1007/s00431-003-1246-3DOI Listing
February 2004

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

Authors:
Andreas Schulze Martin Lindner Dirk Kohlmüller Katharina Olgemöller Ertan Mayatepek Georg F Hoffmann

Pediatrics 2003 Jun;111(6 Pt 1):1399-406

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

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http://dx.doi.org/10.1542/peds.111.6.1399DOI Listing
June 2003

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.

Authors:
Jürgen G Okun Stefan Kölker Andreas Schulze Dirk Kohlmüller Katharina Olgemöller Martin Lindner Georg F Hoffmann Ronald J A Wanders Ertan Mayatepek

Biochim Biophys Acta 2002 Oct;1584(2-3):91-8

Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children's Hospital, Im Neuenheimer Feld 150, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/s1388-1981(02)00296-2DOI Listing
October 2002

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

Authors:
Robert Steinfeld Alfried Kohlschütter Johannes Zschocke Martin Lindner Kurt Ullrich Zoltan Lukacs

Eur J Pediatr 2002 Jul;161(7):403-5

Department of Pediatrics, University of Hamburg, Martinistrasse 52, 20246 Hamburg, Germany.

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http://dx.doi.org/10.1007/s00431-002-0966-0DOI Listing
July 2002