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Seila Eggimann
Researcher at Boston Children's Hospital
Publications - 1
Citations - 85
Seila Eggimann is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Compound heterozygosity & Valine. The author has an hindex of 1, co-authored 1 publications receiving 64 citations.
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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Tobias B. Haack,Christopher B. Jackson,Kei Murayama,Laura S. Kremer,André Schaller,Urania Kotzaeridou,Maaike de Vries,Gudrun Schottmann,Saikat Santra,Boriana Büchner,Thomas Wieland,Elisabeth Graf,Peter Freisinger,Seila Eggimann,Akira Ohtake,Yasushi Okazaki,Masakazu Kohda,Yoshihito Kishita,Yoshimi Tokuzawa,Sascha Sauer,Yasin Memari,Anja Kolb-Kokocinski,Richard Durbin,Oswald Hasselmann,Kirsten Cremer,Beate Albrecht,Dagmar Wieczorek,Hartmut Engels,Dagmar Hahn,Alexander M. Zink,Charlotte L. Alston,Robert W. Taylor,Richard J. Rodenburg,Regina Trollmann,Wolfgang Sperl,Tim M. Strom,Georg F. Hoffmann,Johannes A. Mayr,Thomas Meitinger,Ramona Bolognini,Markus Schuelke,Jean-Marc Nuoffer,Stefan Kölker,Holger Prokisch,Thomas Klopstock,Thomas Klopstock +45 more
TL;DR: The broad phenotypic spectrum and pathobiochemistry of individuals with autosomal‐recessive ECHS1 deficiency is described.