Georg F Hoffmann

Georg F Hoffmann

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Georg F Hoffmann

Georg F Hoffmann

Publications by authors named "Georg F Hoffmann"

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Screening for asymptomatic β-cell autoimmunity in young children.

Lancet Child Adolesc Health 2019 May 10;3(5):288-290. Epub 2019 Feb 10.

DFG-Center for Regenerative Therapies Dresden, Faculty of Medicine, Technical University of Dresden, Dresden, Germany.

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http://dx.doi.org/10.1016/S2352-4642(19)30028-8DOI Listing
May 2019

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

Orphanet J Rare Dis 2019 Apr 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

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

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

J Inherit Metab Dis 2019 Mar 28;42(2):295-302. Epub 2019 Jan 28.

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

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http://doi.wiley.com/10.1002/jimd.12010
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http://dx.doi.org/10.1002/jimd.12010DOI Listing
March 2019

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A.

Stem Cell Res 2019 03 11;35:101398. Epub 2019 Feb 11.

Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101398DOI Listing
March 2019

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.

Genet Med 2019 Mar 22. Epub 2019 Mar 22.

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

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http://dx.doi.org/10.1038/s41436-019-0480-7DOI Listing
March 2019

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.

Mol Genet Metab 2019 Mar 26. Epub 2019 Mar 26.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany; Division of Metabolism, Children's Hospital, Zürich, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183073
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http://dx.doi.org/10.1016/j.ymgme.2019.03.007DOI Listing
March 2019

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Mol Genet Metab 2019 Mar 27. Epub 2019 Mar 27.

Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.03.009DOI Listing
March 2019

Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1.

Stem Cell Res 2019 Mar 22;37:101428. Epub 2019 Mar 22.

Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101428DOI Listing
March 2019

Neurometabolic Hereditary Diseases of Adults.

Authors:
Georg F Hoffmann

J Inherit Metab Dis 2019 Feb 13. Epub 2019 Feb 13.

University Children's Hospital, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/jimd.12074
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http://dx.doi.org/10.1002/jimd.12074DOI Listing
February 2019

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.

PLoS One 2019 28;14(2):e0212458. Epub 2019 Feb 28.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212458PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394934PMC
February 2019

Risk factors for childhood overweight and obesity in Ukraine and Germany

J Clin Res Pediatr Endocrinol 2019 01 11. Epub 2019 Jan 11.

Department of General Pediatrics, University Children´s Hospital, Ruprecht-Karls-University Heidelberg, Germany

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http://dx.doi.org/10.4274/jcrpe.0157DOI Listing
January 2019

Novel challenges in spinal muscular atrophy - How to screen and whom to treat?

Ann Clin Transl Neurol 2019 Jan 13;6(1):197-205. Epub 2018 Nov 13.

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

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http://doi.wiley.com/10.1002/acn3.689
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http://dx.doi.org/10.1002/acn3.689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331314PMC
January 2019

Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.

Clin Chim Acta 2018 Dec 11;487:41-45. Epub 2018 Sep 11.

Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Research Institute, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 5B2, Canada; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2018.09.017DOI Listing
December 2018

Pediatric communication training: A project report on an innovative approach and its effects on student acceptance.

Z Evid Fortbild Qual Gesundhwes 2018 Nov 19;137-138:90-95. Epub 2018 Oct 19.

Center for Pediatrics and Adolescent Medicine,Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.zefq.2018.09.001DOI Listing
November 2018

Cross-sectional analysis on publication status and age representation of clinical studies addressing mechanical ventilation and ventilator-induced lung injury in infants and children.

BMJ Open 2018 Nov 18;8(11):e023524. Epub 2018 Nov 18.

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

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http://dx.doi.org/10.1136/bmjopen-2018-023524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252714PMC
November 2018

High incidence of maternal vitamin B deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.

World J Pediatr 2018 Oct 15;14(5):470-481. Epub 2018 Jun 15.

Division of Neuropediatric and Metabolic Medicine, Department of General Pediatrics, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s12519-018-0159-1DOI Listing
October 2018

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.

Mol Genet Metab 2018 09 23;125(1-2):86-95. Epub 2018 Jun 23.

Center for Child and Adolescent Medicine, and Dietmar-Hopp Metabolic Center, University of Heidelberg, Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.06.011DOI Listing
September 2018

Publication status of completed registered studies in paediatric appendicitis: a cross-sectional analysis.

BMJ Open 2018 Jul 16;8(7):e021684. Epub 2018 Jul 16.

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

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http://dx.doi.org/10.1136/bmjopen-2018-021684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082464PMC
July 2018

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Brain 2018 Jun;141(6):e49

Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, and Center for Rare Disorders, Heidelberg University Hospital, Heidelberg, Germany.

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https://academic.oup.com/brain/article/141/6/e49/4969523
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http://dx.doi.org/10.1093/brain/awy095DOI Listing
June 2018

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.

Genet Med 2018 Jun 6. Epub 2018 Jun 6.

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

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http://www.nature.com/articles/s41436-018-0051-3
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http://dx.doi.org/10.1038/s41436-018-0051-3DOI Listing
June 2018

A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.

Genet Med 2018 04 19;20(5):524-530. Epub 2017 Oct 19.

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

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http://www.nature.com/doifinder/10.1038/gim.2017.133
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http://dx.doi.org/10.1038/gim.2017.133DOI Listing
April 2018

Iron and vitamin D levels among autism spectrum disorders children.

Ann Afr Med 2017 Oct-Dec;16(4):186-191

Department of Pediatrics, University of Heidelberg, Baden-Wurttemberg, Germany.

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http://dx.doi.org/10.4103/aam.aam_17_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676409PMC
March 2018

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Genet Med 2018 01 20;20(1):151-158. Epub 2017 Jul 20.

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

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http://dx.doi.org/10.1038/gim.2017.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763153PMC
January 2018

DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.

Mol Genet Metab 2018 01 20;123(1):1-5. Epub 2017 Nov 20.

Division of Metabolism, University Children's Hospital Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2017.11.005DOI Listing
January 2018

Defining the hidden evidence in autism research. Forty per cent of rigorously designed clinical trials remain unpublished - a cross-sectional analysis.

Int J Methods Psychiatr Res 2017 12 9;26(4). Epub 2016 Nov 9.

Paediatric Neurology and Metabolic Medicine, Centre for Rare Disorders, Centre for Paediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/mpr.1546
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http://dx.doi.org/10.1002/mpr.1546DOI Listing
December 2017

Pediatric use of tetracyclines: focus on neurodevelopmental effects.

Pediatr Res 2017 11 2;82(5):725-726. Epub 2017 Aug 2.

Division of Pediatric Endocrinology, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1038/pr.2017.167DOI Listing
November 2017

Critical appraisal of genotype assessment in molybdenum cofactor deficiency.

J Inherit Metab Dis 2017 11 12;40(6):801-811. Epub 2017 Sep 12.

Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, and Center for Rare Disorders, Heidelberg University Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0077-8DOI Listing
November 2017

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.

Genet Med 2017 09 6;19(9):983-988. Epub 2017 Apr 6.

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

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http://www.nature.com/doifinder/10.1038/gim.2017.10
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http://dx.doi.org/10.1038/gim.2017.10DOI Listing
September 2017

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.

J Inherit Metab Dis 2017 Sep 5;40(5):631-640. Epub 2017 May 5.

Department of Neurology, Harvard Medical School, Boston Children's Hospital, 3 Blackfan Circle, CLS 14060, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10545-017-0048-0DOI Listing
September 2017

Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease.

J Neurol Sci 2017 08 22;379:296-297. Epub 2017 Jun 22.

Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.06.034DOI Listing
August 2017

Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis.

PLoS One 2016 24;11(8):e0161660. Epub 2016 Aug 24.

Pediatric Neurology and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161660PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996488PMC
July 2017

An Assessment of Publication Status of Pediatric Liver Transplantation Studies.

PLoS One 2016 19;11(12):e0168251. Epub 2016 Dec 19.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0168251PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5167264PMC
July 2017

Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.

Orphanet J Rare Dis 2017 06 15;12(1):111. Epub 2017 Jun 15.

Division of Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1186/s13023-017-0661-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472961PMC
June 2017

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

Newborn screening for remethylation disorders and vitamin B deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

World J Pediatr 2017 Apr 15;13(2):136-143. Epub 2017 Jan 15.

University of Heidelberg, Center for Pediatric and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s12519-017-0003-zDOI Listing
April 2017

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

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

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).

Clin Immunol 2017 02 2;175:51-55. Epub 2016 Dec 2.

Department of Pediatric Oncology, Hematology and Immunology, Children's Hospital, University of Heidelberg, Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2016.11.016DOI Listing
February 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

Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B.

Neurology 2017 01 30;88(5):501-502. Epub 2016 Dec 30.

From the La Sapienza University of Rome (V.L., M.M., M.T.G., R.C.), Italy; and University of Heidelberg (G.F.H.), Germany.

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http://dx.doi.org/10.1212/WNL.0000000000003539DOI Listing
January 2017

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.

J Cyst Fibros 2016 11 22;15(6):752-758. Epub 2016 Jul 22.

Institute of Clinical Chemistry and Laboratory Medicine, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2016.07.002DOI Listing
November 2016

Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex.

Cell Rep 2016 11;17(8):2162

The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.10.051DOI Listing
November 2016

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex.

Cell Rep 2016 10;17(4):1053-1070

The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5078873PMC
http://dx.doi.org/10.1016/j.celrep.2016.09.054DOI Listing
October 2016

CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model.

Sci Rep 2016 10 27;6:35794. Epub 2016 Oct 27.

Dietmar-Hopp-Metabolic Center, Department of General Pediatrics, University Hospital, Heidelberg, Germany.

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http://www.nature.com/articles/srep35794
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http://dx.doi.org/10.1038/srep35794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081532PMC
October 2016

Genetic cause and prevalence of hydroxyprolinemia.

J Inherit Metab Dis 2016 09 2;39(5):625-632. Epub 2016 May 2.

Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120, Heidelberg, Germany.

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http://doi.wiley.com/10.1007/s10545-016-9940-2
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http://dx.doi.org/10.1007/s10545-016-9940-2DOI Listing
September 2016

Qualitative urinary organic acid analysis: 10 years of quality assurance.

J Inherit Metab Dis 2016 09 4;39(5):683-687. Epub 2016 May 4.

Centre for Pediatric and Adolescent Medicine, Im Neuenheimer Feld 669, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-016-9941-1DOI Listing
September 2016

Ten Years after the International Committee of Medical Journal Editors' Clinical Trial Registration Initiative, One Quarter of Phase 3 Pediatric Epilepsy Clinical Trials Still Remain Unpublished: A Cross Sectional Analysis.

PLoS One 2016 6;11(1):e0144973. Epub 2016 Jan 6.

Pediatric Neurology and Metabolic Medicine, Center for Rare Disorders, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0144973PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703397PMC
July 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

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

Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards' Responses.

PLoS One 2015 14;10(8):e0135997. Epub 2015 Aug 14.

Pediatric Neurology and Metabolic Medicine, Center for Rare Disease, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135997PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537221PMC
May 2016

Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug act.

Orphanet J Rare Dis 2016 05 12;11(1):60. Epub 2016 May 12.

Center for Pediatric and Adolescent Medicine/Pediatric Neurology and Metabolic Medicine, Center for Rare Disorders, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1186/s13023-016-0443-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866287PMC
May 2016

Novel Treatments for Rare Cancers: The U.S. Orphan Drug Act Is Delivering-A Cross-Sectional Analysis.

Oncologist 2016 Apr 28;21(4):487-93. Epub 2016 Mar 28.

Pediatric Neurology and Metabolic Medicine, Center for Rare Disorders, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

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http://dx.doi.org/10.1634/theoncologist.2015-0397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828121PMC
April 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

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.

Mol Genet Metab 2016 Mar 12;117(3):328-35. Epub 2016 Jan 12.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.004DOI Listing
March 2016

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

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

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Brain 2016 Feb 29;139(Pt 2):317-37. Epub 2015 Dec 29.

1 The F.M. Kirby Neurobiology Centre, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awv371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841365PMC
February 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

Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy.

Pediatr Neurol 2015 Dec 3;53(6):549-50. Epub 2015 Sep 3.

Division of Pediatric Neurology and Inborn Errors of Metabolism, Department of Pediatrics, University Hospital Heidelberg, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.08.018DOI Listing
December 2015

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

Detection of carcinogenic etheno-DNA adducts in children and adolescents with non-alcoholic steatohepatitis (NASH).

Hepatobiliary Surg Nutr 2015 Dec;4(6):426-35

1 Department of Paediatrics, University of Heidelberg, Heidelberg, Germany ; 2 Alcohol Research Centre, University of Heidelberg and Department of Medicine (Gastroenterology & Hepatology), Salem Medical Centre, Heidelberg, Germany ; 3 Institute of Medical Biometry and Informatics, 4 Department of Pathology, University of Heidelberg, Heidelberg, Germany ; 5 Hepatology Unit, Clinic Beau-Site Hirslanden, Bern, Switzerland ; 6 Erstwhile: Division of Toxicology and Cancer Risk Factors, German Cancer Research Centre (DKFZ), Heidelberg, Germany.

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http://dx.doi.org/10.3978/j.issn.2304-3881.2015.12.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689692PMC
December 2015

Carnosine metabolism in diabetes is altered by reactive metabolites.

Amino Acids 2015 Nov 17;47(11):2367-76. Epub 2015 Jun 17.

Centre for Paediatric and Adolescence Medicine, University of Heidelberg, Heidelberg, Germany.

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http://link.springer.com/10.1007/s00726-015-2024-z
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http://dx.doi.org/10.1007/s00726-015-2024-zDOI Listing
November 2015