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S

Sarah C. Grünert

University of Freiburg
H指数:31
被引数:4,545

个人简介

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荣誉奖项

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Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes

长链脂肪酸氧化障碍基因：LC-FAOD变异体、基因型和表型的综合性遗传数据库

Human Mutation
IF3.7
2026-07-070
OAAI
Heather 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
Progressive short stature in Pearson syndrome and the impact of organ failure

佩尔森综合征的进行性身材矮小及器官衰竭的影响

Molecular Genetics and Metabolism
IF3.5
2026-05-170
OAAI
Ayami 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
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey

患有长链脂肪酸氧化障碍的妇女的妊娠: 欧洲和北美的调查结果

Journal of Inherited Metabolic Disease
IF3.8
2026-01-190
OAAI
Sarah 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
Person-centered outcomes for liver glycogen storage diseases: development of an international consensus-based standard outcome set

以患者为中心的肝脏糖原贮积症结局：基于国际共识标准结局集的开发

Genetics in Medicine
IF6.2
2025-09-230
OAAI
Ruben 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
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study

SERAC1相关MEGD(H)EL综合征的听力康复——来自多中心回顾性队列研究的启示

Molecular Genetics and Metabolism
IF3.5
2025-07-210
OAAI
Sebastian 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
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications

线粒体3-羟基-3-甲基戊二酰辅酶A合酶缺乏症：从代谢到临床意义

Genetics in Medicine
IF6.2
2025-06-110
OA
Sarah 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
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening
PEDIATRICS
IF6.4
2024-07-036
PRE
Mengler, 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
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b

依帕列净治疗21例糖原贮积病1b婴儿的中性粒细胞减少和中性粒细胞功能障碍

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-06-011
OAAI
Gruenert, 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.
Treatment recommendations for glycogen storage disease type IB-associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-03-017
OAAI
Gruenert, 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.
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-01-233
OA
Muetze, 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

研究方向

暂未获取到该数据
U
Ute Spiekerkoetter
H 指数:39论文数:155被引数:4,616
T
Terry G. J. Derks
H 指数:33论文数:205被引数:3,641
L
Luciana Hannibal
H 指数:31论文数:174被引数:3,284
J
Jörn Oliver Sass
H 指数:41论文数:212被引数:5,810
S
Stefan Kölker
H 指数:61论文数:823被引数:1.2万
M
Matthias R. Baumgartner
H 指数:62论文数:333被引数:1.3万
S
Sven F. Garbade
H 指数:34论文数:171被引数:5,401
G
Georg F. Hoffmann
H 指数:101论文数:1,118被引数:3.8万
E
Eva Thimm
H 指数:18论文数:65被引数:1,031
A
Anke Schumann
H 指数:14论文数:66被引数:661