Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate by Sarah Catharina Grünert, Anke Schumann, Ute Spiekerkoetter

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Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency by Sarah Catharina Grünert, Matthias Eckenweiler, Ute Spiekerkoetter

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The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI by Sarah Catharina Grünert, Luciana Hannibal, Ute Spiekerkoetter

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Triheptanoin: long-term effects in the very long-chain acyl-CoA dehydrogenase-deficient mouse by Sara Tucci, Ulrich Floegel, Frauke Beermann, Sidney Behringer, Ute Spiekerkoetter

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Biosynthesis, Quantification and Genetic Diseases of the Smallest Signaling Thiol Metabolite: Hydrogen Sulfide by Joanna Myszkowska, Ilia Derevenkov, Sergei V. Makarov, Ute Spiekerkoetter, Luciana Hannibal

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Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. by Marga Sturm, Diran Herebian, Martina Mueller, Maurice D Laryea, Ute Spiekerkoetter

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Successful pregnancy in maple syrup urine disease: a case report and review of the literature by Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Anke Schumann, Karl Otfried Schwab, Nadja Mingirulli, Ute Spiekerkoetter

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Riboflavin 1 Transporter Deficiency: Novel <i>SLC52A1</i> Variants and Expansion of the Phenotypic Spectrum by Sarah C. Grünert, Athanasia Ziagaki, André Heinen, Anke Schumann, Sara Tucci, Ute Spiekerkoetter, Miriam Schmidts

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Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic <i>GLUT2</i> (<i>SLC2A2</i>) Variants by Sarah C. Grünert, Anke Schumann, Federico Baronio, Konstantinos Tsiakas, Simona Murko, Ute Spiekerkoetter, René Santer

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The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria by Anke Schumann, Marion Brutsche, Monique Havermans, Sarah C. Grünert, Stefan Kölker, Olaf Groß, Luciana Hannibal, Ute Spiekerkoetter

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Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib by Sarah Catharina Grünert, Stefanie Rosenbaum‐Fabian, Anke Schumann, Anne‐Christine Selbitz, Waltraut Merz, Andrea Gieselmann, Ute Spiekerkoetter

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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

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Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease by Anna J. Esser, Srijan Mukherjee, Ilia A. Dereven’kov, Sergei V. Makarov, Donald W. Jacobsen, Ute Spiekerkoetter, Luciana Hannibal

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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

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Heptanoate Improves Compensatory Mechanism of Glucose Homeostasis in Mitochondrial Long-Chain Fatty Acid Oxidation Defect by Siti Nurjanah, Albert Gerding, Marcel A. Vieira-Lara, Bernard Evers, Miriam Langelaar-Makkinje, Ute Spiekerkoetter, Barbara M. Bakker, Sara Tucci

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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

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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

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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

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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

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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

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