Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

por Grünert, Sarah C
Publicado 2014

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

por Grünert, Sarah C., Sass, Jörn Oliver
Publicado 2020

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

por Grünert, Sarah C., Sass, Jörn Oliver
Publicado 2020

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

por Grünert, Sarah C., Sass, Jörn Oliver
Publicado 2022

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

por Yoshimi, Ayami, Ishikawa, Kaori, Niemeyer, Charlotte, Grünert, Sarah C.
Publicado 2022

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

por Wilbert, Friederike, Grünert, Sarah C., Heinzmann, Andrea, Bode, Sebastian F. N.
Publicado 2021

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

por Kopp, Julia, Has, Cristina, Hotz, Alrun, Grünert, Sarah C., Fischer, Judith
Publicado 2021

Three successful pregnancies in a patient with glycogen storage disease type 0

por Grünert, Sarah C., Rosenbaum‐Fabian, Stefanie, Hannibal, Luciana, Schumann, Anke, Spiekerkötter, Ute
Publicado 2020

Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors

por Veiga-da-Cunha, Maria, Wortmann, Saskia B., Grünert, Sarah C., Van Schaftingen, Emile
Publicado 2023

Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum

por Grünert, Sarah C., Ziagaki, Athanasia, Heinen, André, Schumann, Anke, Tucci, Sara, Spiekerkoetter, Ute, Schmidts, Miriam
Publicado 2023

Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

por Grünert, Sarah C., Schumann, Anke, Baronio, Federico, Tsiakas, Konstantinos, Murko, Simona, Spiekerkoetter, Ute, Santer, René
Publicado 2021

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management

por Grünert, Sarah C, Villavicencio-Lorini, Pablo, Wermuth, Bendicht, Lehnert, Willy, Sass, Jörn Oliver, Schwab, K Otfried
Publicado 2013

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

por Garbade, Sven F., Ederer, Viviane, Burgard, Peter, Wendel, Udo, Spiekerkoetter, Ute, Haas, Dorothea, Grünert, Sarah C.
Publicado 2021

The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria

por Schumann, Anke, Brutsche, Marion, Havermans, Monique, Grünert, Sarah C., Kölker, Stefan, Groß, Olaf, Hannibal, Luciana, Spiekerkoetter, Ute
Publicado 2023

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

por Hannibal, Luciana, Theimer, Jule, Wingert, Victoria, Klotz, Katharina, Bierschenk, Iris, Nitschke, Roland, Spiekerkoetter, Ute, Grünert, Sarah C.
Publicado 2020

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

por Grünert, Sarah C, Wendel, Udo, Lindner, Martin, Leichsenring, Michael, Schwab, K Otfried, Vockley, Jerry, Lehnert, Willy, Ensenauer, Regina
Publicado 2012

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

por Grünert, Sarah C., Wehrle, A., Villavicencio-Lorini, P., Lausch, E., Vetter, B., Schwab, K. O., Tucci, S., Spiekerkoetter, U.
Publicado 2015

Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study

por Grünert, Sarah C., Venema, Annieke, LaFreniere, Jamas, Schneider, Blair, Contreras, Enrique, Wortmann, Saskia B., Derks, Terry G. J.
Publicado 2023

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

por Grünert, Sarah C., Marquardt, Thorsten, Lausch, Ekkehart, Fuchs, Hans, Thiel, Christian, Sutter, Martin, Schumann, Anke, Hannibal, Luciana, Spiekerkoetter, Ute
Publicado 2019

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

por Grünert, Sarah C., Tucci, Sara, Schumann, Anke, Schwendt, Meike, Gramer, Gwendolyn, Hoffmann, Georg F., Erbel, Michelle, Stiller, Brigitte, Spiekerkoetter, Ute
Publicado 2020