Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
Abstract Objective To delineate the full phenotypic spectrum of BCS1L‐related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed a retrospective multinational cohort study of previously unpublished patie...
Guardado en:
Autores principales: | Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Wiley
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/7ea99688d16d4beba2c9f25ff13dc276 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype
por: Nazreen Kamarus Jaman, et al.
Publicado: (2021) -
Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation
por: Janne Purhonen, et al.
Publicado: (2017) -
Lines on the classification of Ethopian-Semitic
por: Jack Fellman
Publicado: (1996) -
Resisting Islamophobia
por: Nazreen Bacchus
Publicado: (2019) -
Fotóforos subcutáneos en el calamar gigante Dosidicus gigas (d'Orbigny, 1835) (Cephalopoda: Ommastrephidae)
por: Lohrmann,Karin B
Publicado: (2008)