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C

Christian Thiel

University of Pennsylvania
H指数:34
被引数:3,471

个人简介

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荣誉奖项

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L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers

L-岩藻糖补充治疗全球岩藻糖基化降低及SLC35C1单等位基因变异患者的临床改善与生物标志物评估

Molecular Genetics and Metabolism
IF3.5
2026-01-010
PRE
Starosta, Rodrigo T.; He, Miao; Gracie, Sara; Kierstein, Janell; Thiel, Christian; Himmelreich, Nastassja; Liu, Yupeng; Zhang, Wenyue; Edmondson, Andrew C.; Meeks, Naomi; Larson, Austin; Van Hove, Johan L. K.; Kochhar, Aaina
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

SLC35A2-CDG中糖鞘脂合成受损，且可通过添加半乳糖得到改善。

Cellular and Molecular Life Sciences
IF6.2
2025-06-270
OAAI
Andrea Jáñez Pedrayes; Sam De Craemer; Jakub Idkowiak; Dries Verdegem; Christian Thiel; Rita Barone; Mercedes Serrano; Tomáš Honzík; Eva Morava; Pieter Vermeersch; François Foulquier; Willy Morelle; Johannes V. Swinnen; Daisy Rymen; David Cassiman; Bart Ghesquière; Peter Witters
Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia
CELLULAR AND MOLECULAR LIFE SCIENCES
IF6.2
2024-12-160
OAAI
Kopp, Johannes; Jahn, Denise; Vogt, Guido; Psoma, Anthi; Ratto, Edoardo; Morelle, Willy; Stelzer, Nina; Hausser, Ingrid; Hoffmann, Anne; de los Santos, Miguel Rodriguez; Koch, Leonard A.; Fischer-Zirnsak, Bjoern; Thiel, Christian; Palm, Wilhelm; Meierhofer, David; van den Bogaart, Geert; Foulquier, Francois; Meinhardt, Andreas; Kornak, Uwe
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-11-017
OAAI
Wilson, Matthew P.; Garanto, Alejandro; Vairo, Filippo Pinto E.; Ng, Bobby G.; Ranatunga, Wasantha K.; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupre, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M.; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodriguez-Palmero, Agusti; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C. H.; Jaeken, Jaak; Freeze, Hudson H.; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa (vol 100, pg 216, 2017)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-08-017
OAAI
Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; van Kraaij, Sanne; Lefeber, Dirk J.; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y.; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G. Christoph; Chung, Brian H. Y.; Mak, Christopher C. Y.; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Bjorn; Strom, Tim M.; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E.; Leung, Kai Ching Peter; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B.; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A.

研究方向

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N
Nastassja Himmelreich
H 指数:15论文数:52被引数:770
C
Christian Körner
H 指数:135论文数:917被引数:6.9万
G
Georg F. Hoffmann
H 指数:101论文数:1,118被引数:3.8万
É
Éva Morava
H 指数:70论文数:581被引数:1.6万
D
Dirk J. Lefeber
H 指数:54论文数:274被引数:1.0万
T
Tomáš Honzík
H 指数:35论文数:186被引数:4,956
V
Verena Peters
H 指数:32论文数:122被引数:2,747
G
Gernot Poschet
H 指数:36论文数:140被引数:5,407
J
Jürgen G. Okun
H 指数:54论文数:206被引数:9,753
K
Kurt Von Figura
H 指数:92论文数:775被引数:2.9万