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

Yazar: Grünert, Sarah C
Yayımlandı Orphanet J Rare Dis (2014)

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

Yazar: Grünert, Sarah C., Sass, Jörn Oliver
Yayımlandı Orphanet J Rare Dis (2020)

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

Yazar: Grünert, Sarah C., Sass, Jörn Oliver
Yayımlandı Orphanet J Rare Dis (2020)

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

Yazar: Wilbert, Friederike, Grünert, Sarah C., Heinzmann, Andrea, Bode, Sebastian F. N.
Yayımlandı BMC Pediatr (2021)

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

Yazar: Grünert, Sarah C., Rosenbaum‐Fabian, Stefanie, Hannibal, Luciana, Schumann, Anke, Spiekerkötter, Ute
Yayımlandı JIMD Rep (2020)

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

Yazar: Grünert, Sarah C, Villavicencio-Lorini, Pablo, Wermuth, Bendicht, Lehnert, Willy, Sass, Jörn Oliver, Schwab, K Otfried
Baskı/Yayın Bilgisi 2013

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

Yazar: Hannibal, Luciana, Theimer, Jule, Wingert, Victoria, Klotz, Katharina, Bierschenk, Iris, Nitschke, Roland, Spiekerkoetter, Ute, Grünert, Sarah C.
Yayımlandı Front Endocrinol (Lausanne) (2020)

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

Yazar: Grünert, Sarah C, Wendel, Udo, Lindner, Martin, Leichsenring, Michael, Schwab, K Otfried, Vockley, Jerry, Lehnert, Willy, Ensenauer, Regina
Baskı/Yayın Bilgisi 2012

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

Yazar: Grünert, Sarah C., Wehrle, A., Villavicencio-Lorini, P., Lausch, E., Vetter, B., Schwab, K. O., Tucci, S., Spiekerkoetter, U.
Yayımlandı BMC Med Genet (2015)

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

Yazar: Grünert, Sarah C., Marquardt, Thorsten, Lausch, Ekkehart, Fuchs, Hans, Thiel, Christian, Sutter, Martin, Schumann, Anke, Hannibal, Luciana, Spiekerkoetter, Ute
Yayımlandı Orphanet J Rare Dis (2019)

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

Yazar: Grünert, Sarah C., Tucci, Sara, Schumann, Anke, Schwendt, Meike, Gramer, Gwendolyn, Hoffmann, Georg F., Erbel, Michelle, Stiller, Brigitte, Spiekerkoetter, Ute
Yayımlandı Orphanet J Rare Dis (2020)

Biomarkers and Algorithms for the Diagnosis of Vitamin B(12) Deficiency

Yazar: Hannibal, Luciana, Lysne, Vegard, Bjørke-Monsen, Anne-Lise, Behringer, Sidney, Grünert, Sarah C., Spiekerkoetter, Ute, Jacobsen, Donald W., Blom, Henk J.
Yayımlandı Front Mol Biosci (2016)

Corrigendum: Biomarkers and Algorithms for the Diagnosis of Vitamin B(12) Deficiency

Yazar: Hannibal, Luciana, Lysne, Vegard, Bjørke-Monsen, Anne-Lise, Behringer, Sidney, Grünert, Sarah C., Spiekerkoetter, Ute, Jacobsen, Donald W., Blom, Henk J.
Yayımlandı Front Mol Biosci (2017)

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

Yazar: Alatibi, Khaled I., Hagenbuchner, Judith, Wehbe, Zeinab, Karall, Daniela, Ausserlechner, Michael J., Vockley, Jerry, Spiekerkoetter, Ute, Grünert, Sarah C., Tucci, Sara
Yayımlandı Cells (2021)

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

Yazar: Schüle, Isabel, Berger, Urs, Matysiak, Uta, Ruzaike, Gunda, Stiller, Brigitte, Pohl, Martin, Spiekerkoetter, Ute, Lausch, Ekkehart, Grünert, Sarah C., Schmidts, Miriam
Yayımlandı Genes (Basel) (2021)

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

Yazar: Grünert, Sarah C., Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Beck-Wödl, Stefanie, Haack, Tobias B., Grimmel, Mona, Bertrand, Miriam, Spiekerkoetter, Ute
Yayımlandı Diagnostics (Basel) (2021)

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

Yazar: Grünert, Sarah C., Matysiak, Uta, Hodde, Franka, Ruzaike, Gunda, Lausch, Ekkehart, Schumann, Anke, van der Werf-Grohmann, Natascha, Spiekerkoetter, Ute, Schmidts, Miriam
Yayımlandı Diagnostics (Basel) (2021)

Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino...

Yazar: Grünert, Sarah C, Brichta, Corinna M, Krebs, Andreas, Clement, Hans-Willi, Rauh, Reinhold, Fleischhaker, Christian, Hennighausen, Klaus, Sass, Jörn Oliver, Schwab, K Otfried
Baskı/Yayın Bilgisi 2013

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

Yazar: Grünert, Sarah C., Elling, Roland, Maag, Bärbel, Wortmann, Saskia B., Derks, Terry G. J., Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Spiekerkoetter, Ute
Yayımlandı Orphanet J Rare Dis (2020)

Elevated Plasma Vitamin B(12) in Patients with Hepatic Glycogen Storage Diseases

Yazar: Hinkel, Julia, Schmitt, Johannes, Wurm, Michael, Rosenbaum-Fabian, Stefanie, Schwab, Karl Otfried, Jacobsen, Donald W., Spiekerkoetter, Ute, Fedosov, Sergey N., Hannibal, Luciana, Grünert, Sarah C.
Yayımlandı J Clin Med (2020)