Publications by authors named "Natalie Weinhold"

6Publications

Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.

Authors:
E M Charlotte Märtner Esther M Maier Katharina Mengler Eva Thimm Katharina A Schiergens Thorsten Marquardt René Santer 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-Seifert Dominic Lenz Georg F Hoffmann Chris Mühlhausen Regina Ensenauer Sven F Garbade Stefan Kölker Nikolas Boy

J Inherit Metab Dis 2020 Dec 3. Epub 2020 Dec 3.

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

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December 2020

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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May 2018

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Authors:
Ana Pop Monique Williams Eduard A Struys Magnus Monné Erwin E W Jansen Anna De Grassi Warsha A Kanhai Pasquale Scarcia Matilde R Fernandez Ojeda Vito Porcelli Silvy J M van Dooren Pascal Lennertz Benjamin Nota Jose E Abdenur David Coman Anibh Martin Das Areeg El-Gharbawy Jean-Marc Nuoffer Branka Polic René Santer Natalie Weinhold Britton Zuccarelli Ferdinando Palmieri Luigi Palmieri Gajja S Salomons

J Inherit Metab Dis 2018 03 13;41(2):169-180. Epub 2017 Dec 13.

Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center Metabolic Unit PK 1X009, Postbus 7057, 1007 MB, Amsterdam, The Netherlands.

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March 2018

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Authors:
Gudrun Schottmann Akosua Sarpong Carmen Lorenz Natalie Weinhold Esther Gill Lisa Teschner Sacha Ferdinandusse Ronald J A Wanders Alessandro Prigione Markus Schuelke

Mov Disord 2016 11 12;31(11):1733-1739. Epub 2016 Jul 12.

Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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November 2016

Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.

Authors:
Julia Thumfart Bernhard Weschke Hannelore Ringe Natalie Weinhold Dominik Müller

Eur J Paediatr Neurol 2016 Jul 3;20(4):649-51. Epub 2016 May 3.

Department of Pediatric Nephrology, Charité, Berlin, Germany.

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July 2016

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.

Authors:
Ina Knerr Natalie Weinhold Jerry Vockley K Michael Gibson

J Inherit Metab Dis 2012 Jan 3;35(1):29-40. Epub 2011 Feb 3.

Children's and Adolescents' Hospital, Otto-Heubner Centrum, Pediatric Metabolic Unit, Charité - Universitätsmedizin, Berlin, Germany.

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January 2012