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

Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia

por Grünert, S. C., Bodi, I., Odening, K. E.
Publicado 2017

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

por Schmidt, Carsten, Grunert, Philip C., Stallmach, Andreas
Publicado 2021

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

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

por Reuken, Philipp A., Grunert, Philip C., Lügering, Andreas, Teich, Niels, Stallmach, Andreas
Publicado 2020

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

Eine chirurgisch relevante Zusammenfassung des Addendums zu den DGVS-S3-Leitlinien Morbus Crohn und Colitis ulcerosa: Therapie chronisch entzündlicher Darmerkrankungen in der COVID...

por Grunert, Philip C., Dignass, Axel, Kucharzik, Torsten, Stallmach, Andreas, Sturm, Andreas, Schmidt, Carsten
Publicado 2020

Fäkaler Mikrobiomtransfer – Indikationen, Risiken und Chancen

por Stallmach, Andreas, Steube, Arndt, Stallhofer, Johannes, Grunert, Philip C., Merkel, Ute, Hartmann, Michael
Publicado 2022

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

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

por Lühl, S., Bode, H., Schlötzer, W., Bartsakoulia, M., Horvath, R., Abicht, A., Stenzel, M., Kirschner, J., Grünert, S. C.
Publicado 2016