Publications by authors named "Stine Christ"

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Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.
Nina-Maria Wilpert, Angela L Hewitt, Roser Pons, Marie-Thérèse Henke, Andrea Dell'Orco, Christiane Grolik, Christina Reinauer, Christian Furth, Stine Christ

Mov Disord· May 2025

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An atypical presentation in a child with propionic acidemia? Better think twice!
Tim Burkhardt, Katharine L Kastor, Stine Christ, Thomas Opladen, Christian Staufner

JIMD Rep· March 2025

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Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Anna T Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Stine Christ

J Inherit Metab Dis· July 2024

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Validated UPLC-MS/MS method for the analysis of vitamin B pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid.
Julia Rossmann, Stine Christ, Sylvia Richter, Sven Friedrich Garbade, Georg Friedrich Hoffmann

J Chromatogr B Analyt Technol Biomed Life Sci· December 2022

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The "Young Metabolic Society": An interest group for young professionals in the field of metabolic medicine.
Heiko Brennenstuhl, Stine Christ, Vanessa Kock

J Inherit Metab Dis· July 2021

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Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Urania Kotzaeridou, Sara K Young-Baird, Vanessa Suckow, Alexis G Thornburg, Matias Wagner, Stine Christ

Clin Genet· November 2020

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Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Glynis Klinke, Sylvia Richter, Péter Monostori, Brigitte Schmidt-Mader, Angels García-Cazorla, Stine Christ

J Inherit Metab Dis· July 2020

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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Stine Christ

Am J Hum Genet· September 2016

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