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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 4
Zeitschriftenartikel
Churchill, Grant C.; Strupp, Michael; Factor, Cailley; Bremova-Ertl, Tatiana; Factor, Mallory; Patterson, Marc C.; Platt, Frances M. und Galione, Antony
(2021):
Acetylation turns leucine into a drug by membrane transporter switching.
In: Scientific Reports, Bd. 11, Nr. 1, 15812
Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas und i Dali, Christine
(2020):
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
In: Orphanet Journal of Rare Diseases, Bd. 15, Nr. 1, 328
Sobrido, Maria-Jesus; Bauer, Peter; de Koning, Tom; Klopstock, Thomas; Nadjar, Yann; Patterson, Marc C.; Synofzik, Matthis und Hendriksz, Chris J.
(2019):
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
In: Orphanet Journal of Rare Diseases, Bd. 14, 20
[PDF, 696kB]
Bremova-Ertl, Tatiana; Schiffmann, Raphael; Patterson, Marc C.; Belmatoug, Nadia; Billette de Villemeur, Thierry; Bardins, Stanislavs; Frenzel, Claudia; Malinová, Věra; Naumann, Silvia; Arndt, Juliane; Mengel, Eugen; Reinke, Jörg; Strobl, Ralf und Strupp, Michael
(2017):
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings.
In: Frontiers in Neurology, Bd. 8: S. 1-19
[PDF, 2MB]