3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

by Sarah C. Grünert, Jörn Oliver Sass
Published 2020-02-01

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

by Sarah C. Grünert, Jörn Oliver Sass
Published 2020-04-01

An Update for Pharmacologists on New Treatment Options for Inflammatory Bowel Disease: The Clinicians’ Perspective

by Carsten Schmidt, Philip C. Grunert, Andreas Stallmach
Published 2021-04-01

Cystic fibrosis in disguise – the wolf in sheep’s clothing, a case report

by Friederike Wilbert, Sarah C. Grünert, Andrea Heinzmann, Sebastian F. N. Bode
Published 2021-04-01

Maternal Isodisomy of Chromosome 3 Combined with a <i>De Novo</i> Mutation in the <i>ABHD5</i> Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

by Julia Kopp, Cristina Has, Alrun Hotz, Sarah C. Grünert, Judith Fischer
Published 2021-07-01

Self-assessment of treatment targets in patients with inflammatory bowel disease using a survey

by Philipp A. Reuken, Philip C. Grunert, Andreas Lügering, Niels Teich, Andreas Stallmach
Published 2020-11-01

Impact of glycogen storage disease type I on adult daily life: a survey

by Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas, Sarah C. Grünert
Published 2021-09-01

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum

by S. Lühl, H. Bode, W. Schlötzer, M. Bartsakoulia, R. Horvath, A. Abicht, M. Stenzel, J. Kirschner, S. C. Grünert
Published 2016-10-01

Metabolic Profiling in Human Fibroblasts Enables Subtype Clustering in Glycogen Storage Disease

by Luciana Hannibal, Jule Theimer, Victoria Wingert, Katharina Klotz, Iris Bierschenk, Roland Nitschke, Roland Nitschke, Ute Spiekerkoetter, Sarah C. Grünert
Published 2020-11-01

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

by Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter
Published 2019-10-01

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!

by Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller, Ute Spiekerkoetter
Published 2020-04-01

Corrigendum: Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency

by Luciana Hannibal, Vegard Lysne, Anne-Lise Bjørke-Monsen, Sidney Behringer, Sarah C. Grünert, Ute Spiekerkoetter, Donald W. Jacobsen, Henk J. Blom
Published 2017-08-01

Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders

by Khaled I. Alatibi, Judith Hagenbuchner, Zeinab Wehbe, Daniela Karall, Michael J. Ausserlechner, Jerry Vockley, Ute Spiekerkoetter, Sarah C. Grünert, Sara Tucci
Published 2021-05-01

A Homozygous Deletion of Exon 5 of <i>KYNU</i> Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

by Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts
Published 2021-06-01

Isolated Hypomethylation of <i>IGF2</i> Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

by Sarah C. Grünert, Uta Matysiak, Franka Hodde, Gunda Ruzaike, Ekkehart Lausch, Anke Schumann, Natascha van der Werf-Grohmann, Ute Spiekerkoetter, Miriam Schmidts
Published 2021-04-01

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

by Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter
Published 2021-03-01

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

by Sarah C. Grünert, Roland Elling, Bärbel Maag, Saskia B. Wortmann, Terry G. J. Derks, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Ute Spiekerkoetter
Published 2020-08-01

Elevated Plasma Vitamin B₁₂ in Patients with Hepatic Glycogen Storage Diseases

by Julia Hinkel, Johannes Schmitt, Michael Wurm, Stefanie Rosenbaum-Fabian, Karl Otfried Schwab, Donald W. Jacobsen, Ute Spiekerkoetter, Sergey N. Fedosov, Luciana Hannibal, Sarah C. Grünert
Published 2020-07-01

Citrin deficiency mimicking mitochondrial depletion syndrome

by S. C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A. J. Mueller, S. Beck-Wödl, T. B. Haack, H. Schneider, H. Fuchs, U. Teufel, G. Gramer, L. Hannibal, U. Spiekerkoetter
Published 2020-11-01

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

by Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendijk, Sarah C. Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R. Baumgartner, Martina Huemer
Published 2019-11-01