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Sarah C. Grünert

freiburg university hospital

31H-index
167Paper Count
4.5KCitation Count
Published Papers 57
Publication Date
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Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes
errHuman Mutation
IF3.7
err2026-07-07
err0
errOAAI
errHeather Richbourg; Vanessa Rangel Miller; Omid Khazaie Japalaghi; Moeenaldeen AlSayed; Peter R. Baker; Sean Daugherty; Tali Ekstein; Sarah C. Grünert; Mark J. Kiel; Aneal Khan; Hironori Kobayashi; Lawrence Korngut; Stephanie A. Monteleone; Ida Vanessa D. Schwartz; Nicole Miller; Jerry Vockley
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Progressive short stature in Pearson syndrome and the impact of organ failure
errMolecular Genetics and Metabolism
IF3.5
err2026-05-17
err0
errOAAI
errAyami Yoshimi; Holger Cario; Kirsten Timmermann; Udo Kontny; Stephan Lobitz; Helen S. Odenthal; Irene Schmid; Barbara Seitz; Tanja Höll; Thomas Lücke; Arndt Borkhardt; Gabriele Strauß; Alexander Hohnecker; Markus Metzler; Daniela Karall; Peter Noellke; Charlotte M. Niemeyer; Sarah C. Grünert
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Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data
errJournal of Inherited Metabolic Disease
IF3.8
err2026-02-17
err0
errOAAI
errSchwantje, Marit; Maase, Rose E.; Dekkers, Eugenie; Ferdinandusse, Sacha; Vaz, Frederic M.; Horster, Friederieke; Mutze, Ulrike; Grunert, Sarah C.; Visser, Gepke; van der Velden, Monique G. M. De Sain; Fuchs, Sabine A.
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Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey
errJournal of Inherited Metabolic Disease
IF3.8
err2026-01-19
err0
errOAAI
errSarah C. Grünert; Mirjam Langeveld; Lisa Rudolph; Ute Spiekerkoetter; Allan M. Lund; Annalisa Sechi; Halil Tuna Akar; Karolina M. Stepien; Hanım Aghakishili; Amelie S. Lotz-Havla; Klaus G. Parhofer; Saadet Mercimek-Andrews; Havva Yazıcı; Sema Kalkan Uçar; Thomas Scherer; Margreet Wagenmakers; Nur Arslan; Irene Chang; Allie LaTray; Vladimir Bzduch; Ivo Barić; Corina Weigel; Sonja. L. van Ockenburg; Alexander Rennings; Terry G. J. Derks; Alessandro Rossi; David Cassiman; Elaine Murphy
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Author Correction: PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia
errnpj Genomic Medicine
IF4.8
err2025-12-30
err0
errOAAI
errRebecca L. Koch; Angie H. Fares; Benjamin T. Cocanougher; Jamie Lim; Andrea B. Haijer-Schreuder; Terry G. J. Derks; Sarah C. Grünert; Reena Sharma; Karra A. Jones; Priya S. Kishnani
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PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia
errnpj Genomic Medicine
IF4.8
err2025-11-10
err0
errOAAI
errRebecca L. Koch; Angie H. Fares; Benjamin T. Cocanougher; Jamie Lim; Andrea B. Haijer-Schreuder; Terry G. J. Derks; Sarah C. Grünert; Reena Sharma; Karra A. Jones; Priya S. Kishnani
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Person-centered outcomes for liver glycogen storage diseases: development of an international consensus-based standard outcome set
errGenetics in Medicine
IF6.2
err2025-09-23
err0
errOAAI
errRuben J. Overduin; Andrea B. Haijer-Schreuder; Frederiec K. Withaar; Sarah C. Grünert; Jamas LaFreniere; Enrique L. Contreras; Gayle W. Temkin; Blair Stone-Schneider; Frédéric Vanneste; Hanka Dekker; Marieke J. Fokkert-Wilts; Melanie M. van der Klauw; David A. Weinstein; Alessandro Rossi; Terry G.J. Derks
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Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency
errJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
IF1
err2025-09-01
err0
PREAI
errGrunert, Sarah C.; Berger, Urs; Horster, Friederike; Schwarz, Kathrin; Thimm, Eva; Spiekerkoetter, Ute; Haas, Dorothea; Schumann, Anke
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Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study
errMolecular Genetics and Metabolism
IF3.5
err2025-07-21
err0
errOAAI
errSebastian Roesch; Anna O'Sullivan; Stefan Tschani; Anna Baghdasaryan; Shanti Balasubramaniam; Ivo Barić; Lonneke de Boer; Sarah C. Grünert; Anna Guzek; Mirian Janssen; Zita Krumina; Mary Kay Koenig; Ashleigh M. Lewkowitz; Fanny Mochel; Arianne Monge Naldi; Barbara Plecko; Kerem Öztürk; Lauren O'Grady; Gillian Riordan; Daisy Rymen; Inderneel Sahai; René Santer; Manuel Schiff; Georg M. Stettner; Konstantinos Tsiakas; Sema Kalkan Uçar; Özlem Ünal Uzun; Corina Weigel; Peter Witters; Kajus Merkevicius; Johannes A. Mayr; Saskia B. Wortmann; Katarzyna Iwanicka-Pronicka
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Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications
errGenetics in Medicine
IF6.2
err2025-06-11
err0
errOAAI
errSarah C. Grünert; Matthias R. Baumgartner; Juliette Bouchereau; Alberto Burlina; Peter T. Clayton; Javier de las Heras; Carlo Dionisi-Vici; Corinne Gemperle-Britschgi; Claudia Haase; Stanley H. Korman; Johannes Krämer; Eva Kühlwein; Esther M. Maier; Arianna Maiorana; Manuel Schiff; Carl Ulrich Schmid; Trine Tangeraas; Raina Yamamoto; Johannes Zschocke; Jörn Oliver Sass
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State of the art management practices for liver glycogen storage disorders: Results from an international survey among metabolic centres
errMolecular Genetics and Metabolism
IF3.5
err2025-05-06
err0
errOAAI
errSarah C. Grünert; Terry G.J. Derks; Alessandro Rossi
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Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13
errCELLS
IF5.2
err2025-04-25
err0
errOAAI
errRadenkovic, Silvia; Adant, Isabelle; Bird, Matthew J.; Swinnen, Johannes V.; Cassiman, David; Kozicz, Tamas; Gruenert, Sarah C.; Ghesquiere, Bart; Morava, Eva
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Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errSchumann, Anke; Garbade, Sven F.; Beblo, Skadi; Gautschi, Matthias; Haas, Dorothea; Hochuli, Michel; Hoffmann, Georg; May, Petra; Merkel, Martin; Scholl-Buergi, Sabine; Thimm, Eva; Weinhold, Natalie; Williams, Monika; Wortmann, Saskia; Gruenert, Sarah C.
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Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening
errPEDIATRICS
IF6.4
err2024-07-03
err6
PREAI
errMengler, Katharina; Garbade, Sven F.; Gleich, Florian; Thimm, Eva; May, Petra; Lindner, Martin; Luesebrink, Natalia; Marquardt, Thorsten; Huebner, Vanessa; Kraemer, Johannes; Neugebauer, Julia; Beblo, Skadi; Gillitzer, Claus; Gruenert, Sarah C.; Hennermann, Julia B.; Kamrath, Clemens; Marquardt, Iris; Naeke, Andrea; Murko, Simona; Schmidt, Sebastian; Schnabel, Elena; Lommer-Steinhoff, Svenja; Hoffmann, Georg F.; Beime, Jan; Santer, Rene; Koelker, Stefan; Muetze, Ulrike
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Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-06-01
err1
errOAAI
errGruenert, Sarah C.; Gautschi, Matthias; Baker, Joshua; Boyer, Monica; Burlina, Alberto; Casswall, Thomas; Corpeleijn, Willemijn; Ciki, Kismet; Cotter, Melanie; Crushell, Ellen; Derks, Terry G. J.; Haas, Dorothea; Kilavuz, Sebile; Kingma, Sandra D. K.; Korman, Stanley H.; Kozek, Anne; de Laet, Corinne; Mundy, Helen; Nassogne, Marie Cecile; Quintero, Victor; Rossi, Alessandro; Spenger, Johannes; Spiegel, Ronen; Stephenne, Xavier; Stojkov, Darko; Tal, Galit; Cunha, Maria Veiga-da; Wortmann, Saskia B.
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Treatment recommendations for glycogen storage disease type IB-associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-03-01
err7
errOAAI
errGruenert, Sarah C.; Derks, Terry G. J.; Mundy, Helen; Dalton, R. Neil; Donadieu, Jean; Hofbauer, Peter; Jones, Neil; Ucar, Sema Kalkan; LaFreniere, Jamas; Contreras, Enrique Landelino; Pendyal, Surekha; Rossi, Alessandro; Schneider, Blair; Spiegel, Ronen; Stepien, Karolina M.; Wesol-Kucharska, Dorota; Veiga-da-Cunha, Maria; Wortmann, Saskia B.
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Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2024-01-23
err3
errOAAI
errMuetze, Ulrike; Ottenberger, Alina; Gleich, Florian; Maier, Esther M.; Lindner, Martin; Husain, Ralf A.; Palm, Katja; Beblo, Skadi; Freisinger, Peter; Santer, Rene; Thimm, Eva; vom Dahl, Stephan; Weinhold, Natalie; Grohmann-Held, Karina; Haase, Claudia; Hennermann, Julia B.; Hoerbe-Blindt, Alexandra; Kamrath, Clemens; Marquardt, Iris; Marquardt, Thorsten; Behne, Robert; Haas, Dorothea; Spiekerkoetter, Ute; Hoffmann, Georg F.; Garbade, Sven F.; Gruenert, Sarah C.; Koelker, Stefan
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Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-01-20
err0
errOAAI
errSchwantje, Marit; Gruenert, Sarah C.; Fuchs, Sabine A.
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Glycogen storage diseases
errNATURE REVIEWS DISEASE PRIMERS
IF60.6
err2023-09-07
err17
PREAI
errHannah, William B.; Derks, Terry G. J.; Drumm, Mitchell L.; Gruenert, Sarah C.; Kishnani, Priya S.; Vissing, John
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Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors
errDIAGNOSTICS
IF3.3
err2023-05-19
err15
errOAAI
errVeiga-da-Cunha, Maria; Wortmann, Saskia B.; Gruenert, Sarah C.; Van Schaftingen, Emile
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Research Directions

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Co-authors
Cooperation Journals
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Henk J. Blom
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A
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