Publications by authors named "Nikolas Boy"

19Publications

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.

Gene 2020 Oct 22:145260. Epub 2020 Oct 22.

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

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http://dx.doi.org/10.1016/j.gene.2020.145260DOI 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

Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis.

Genet Med 2020 Sep 28. Epub 2020 Sep 28.

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

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http://dx.doi.org/10.1038/s41436-020-00971-4DOI Listing
September 2020

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1.

J Inherit Metab Dis 2019 01;42(1):117-127

Department of Neuroradiology, University of Heidelberg Medical Center, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1002/jimd.12033DOI Listing
January 2019

Age-Related Changes and Reference Values of Bicaudate Ratio and Sagittal Brainstem Diameters on MRI.

Neuropediatrics 2018 08 5;49(4):269-275. Epub 2018 Jun 5.

Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1055/s-0038-1660475DOI Listing
August 2018

Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1.

J Inherit Metab Dis 2018 May 2. Epub 2018 May 2.

Department of Neuroradiology, University of Heidelberg Medical Center, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-018-0187-yDOI Listing
May 2018

Organic acidurias in adults: late complications and management.

J Inherit Metab Dis 2018 09 15;41(5):765-776. Epub 2018 Jan 15.

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

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http://doi.wiley.com/10.1007/s10545-017-0135-2
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http://dx.doi.org/10.1007/s10545-017-0135-2DOI Listing
September 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

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Orphanet J Rare Dis 2017 04 24;12(1):77. Epub 2017 Apr 24.

Department of Neuroradiology, University Hospital Heidelberg, Im Neuenheimer Feld 400, 60120, Heidelberg, Germany.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-017-06
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http://dx.doi.org/10.1186/s13023-017-0612-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402644PMC
April 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

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

(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.

J Inherit Metab Dis 2015 Sep 10;38(5):829-38. Epub 2015 Apr 10.

Department of Neuroradiology, University of Heidelberg Medical Center, Im Neuenheimer Feld 400, D-69120, Heidelberg, Germany,

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http://dx.doi.org/10.1007/s10545-015-9826-8DOI Listing
September 2015

Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case Report.

J Child Neurol 2015 Jul 17;30(8):1065-9. Epub 2014 Jul 17.

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

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http://journals.sagepub.com/doi/10.1177/0883073814541479
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http://dx.doi.org/10.1177/0883073814541479DOI Listing
July 2015

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