Andrea Dieckmann

Center for Inborn Metabolic Disorders Jena University Hospital

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论文共 12 篇作者统计合作学者相似作者

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Isovaleric Aciduria Identified by Newborn Screening: Strategies to Predict Disease Severity and Stratify Treatment

Ulrike Muetze,Lucy Henze,Julian Schroeter,Florian Gleich,Martin Lindner,Sarah C. Gruenert,Ute Spiekerkoetter,Rene Santer,Eva Thimm,Regina Ensenauer,Johannes Weigel,Skadi Beblo,Maria Arelin,Julia B. Hennermann,Iris Marquardt,Peter Freisinger,Johannes Kraemer,Andrea Dieckmann,Natalie Weinhold,Katharina A. Schiergens,Esther M. Maier,Georg F. Hoffmann,Sven F. Garbade,Stefan Koelker

Journal of Inherited Metabolic Diseaseno. 6 (2023): 1063-1077

引用0浏览0WOS引用

The Biochemical High Excreter Phenotype is the Major Risk Factor for Cognitive Impairment in Early Diagnosed Individuals with Glutaric Aciduria Type 1

E. M. Charlotte Märtner,Eva Thimm,Philipp Guder,Katharina A. Schiergens,Frank Rutsch,Sylvia Roloff,Iris Marquardt,Anibh M. Das,Peter Freisinger,Sarah C. Grünert,Johannes Krämer,Matthias R. Baumgartner,Skadi Beblo,Claudia Haase,Andrea Dieckmann,Martin Lindner,Andrea Näke,Georg F. Hoffmann,Chris Mühlhausen,Magdalena Walter,Sven F. Garbade,Esther M. Maier,Stefan Kölker,Nikolas Boy

Neuropediatrics (2021)

引用0浏览0引用

The Biochemical Subtype is a Predictor for Cognitive Function in Glutaric Aciduria Type 1: a National Prospective Follow-Up Study

Scientific Reports（2021）

引用10浏览0WOSNATURE引用

Newborn Screening and Disease Variants Predict Neurological Outcome in Isovaleric Aciduria

Ulrike Muetze,Lucy Henze,Florian Gleich,Martin Lindner,Sarah C. Gruenert,Ute Spiekerkoetter,Rene Santer,Holger Blessing,Eva Thimm,Regina Ensenauer,Johannes Weigel,Skadi Beblo,Maria Arelin,Julia B. Hennermann,Thorsten Marquardt,Iris Marquardt,Peter Freisinger,Johannes Kraemer,Andrea Dieckmann,Natalie Weinhold,Mareike Keller,Magdalena Walter,Katharina A. Schiergens,Esther M. Maier,Georg F. Hoffmann,Sven F. Garbade,Stefan Koelker

Journal of Inherited Metabolic Disease（2021）

引用14浏览0WOS引用

Impact of Interventional and Non‐interventional Variables on Anthropometric Long‐term Development in Glutaric Aciduria Type 1: A National Prospective Multi‐centre Study

E. M. Charlotte Maertner,Esther M. Maier,Katharina Mengler,Eva Thimm,Katharina A. Schiergens,Thorsten Marquardt,Rene Santer,Natalie Weinhold,Iris Marquardt,Anibh M. Das,Peter Freisinger,Sarah C. Gruenert,Judith Vossbeck,Robert Steinfeld,Matthias R. Baumgartner,Skadi Beblo,Andrea Dieckmann,Andrea Naeke,Martin Lindner,Jana Heringer-Seifert,Dominic Lenz,Georg F. Hoffmann,Chris Muehlhausen,Regina Ensenauer,Sven F. Garbade,Stefan Koelker,Nikolas Boy

Journal of Inherited Metabolic Disease（2020）

引用13浏览0WOS引用

EED and EZH2 Constitutive Variants: A Study to Expand the Cohen‐Gibson Syndrome Phenotype and Contrast It with Weaver Syndrome

Sara Griffiths,Chey Loveday,Anna Zachariou,Lucy-Ann Behan,Kate Chandler,Trevor Cole,Stefano D'Arrigo,Andrea Dieckmann,Alison Foster,James Gibney,Matthew Hunter,Donatella Milani,Chiara Pantaleoni,Edna Roche,Mark Sherlock,Amanda Springer,Susan M. White,Katrina Tatton-Brown

American journal of medical genetics Part A（2019）

引用18浏览0WOS引用

Defining and Expanding the Phenotype of QARS -Associated Developmental Epileptic Encephalopathy

Katrine Johannesen,Diana Mitter,Robert Janowski,Christian Roth,Joseph Toulouse,Anne-Lise Poulat,Dorothee M. Ville,Nicolas Chatron,Eva Brilstra,Karin Geleijns,Alfred Peter Born,Scott McLean,Kimberly Nugent,Gareth Baynam,Cathryn Poulton,Lauren Dreyer,Dylan Gration,Solveig Schulz,Andrea Dieckmann,Katherine L. Helbig,Andreas Merkenschlager,Rami Jamra, Anja Finck,Elena Gardella,Helle Hjalgrim,Ghayda Mirzaa,Francesco Brancati,Tatjana Bierhals,Jonas Denecke,Maja Hempel,Johannes R. Lemke,Guido Rubboli,Petra Muschke,Renzo Guerrini,Annalisa Vetro,Dierk Niessing,Gaetan Lesca,Rikke S. Moller

Neurology Genetics（2019）

引用5浏览0WOS引用

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

Laila Arash-Kaps,Katalin Komlosi, Marlene Seegraeber,Stefan Diederich,Eduard Paschke,Yasmina Amraoui,Skadi Beblo,Andrea Dieckmann,Martin Smitka,Julia B. Hennermann

The Journal of Pediatrics（2019）

引用26浏览0WOS引用

Newborn screening, a disease-changing intervention for glutaric aciduria type 1

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

ANNALS OF NEUROLOGY（2018）

引用78浏览0WOS引用

FV 754. Newborn Screening, a Disease-Modifying Intervention for Glutaric Aciduria Type 1

Nikolas Boy,Katharina Mengler,Eva Thimm,Katharina 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 Hoffmann,Chris Mühlhausen,Esther Maier,Regina Ensenauer,Sven Garbade,Stefan Kölker

Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics Neuropediatrics (2018)

引用0浏览0引用

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作者统计

#Papers: 12

#Citation: 172

H-Index: 7

G-Index: 8

Sociability: 5

Diversity: 2

Activity: 3

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