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2023
Mark Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel, G.F. ; Eklund, E.A. ^LU and Wortmann, S. (2023) In Genetics in Medicine 25(6).
- Contribution to journal › Article
2022
Mark Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1
Fellman, Vineta ^LU ; Banerjee, Rishi ; Lin, Kai Lan ; Pulli, Ilari ; Cooper, Helen ; Tyynismaa, Henna and Kallijärvi, Jukka ^LU (2022) In Biochimica et Biophysica Acta - Molecular Basis of Disease 1868(1).
- Contribution to journal › Article
Mark A relatively common hypomorphic variant in WARS2 causes monogenic disease
Ilinca, Andreea ^LU ; Kafantari, Efthymia ^LU and Puschmann, Andreas ^LU (2022) In Parkinsonism and Related Disorders 94. p.129-131
- Contribution to journal › Debate/Note/Editorial
2019
Mark Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients
Sofou, Kalliopi ; Shahim, Pashtun ; Tulinius, Már ; Blennow, Kaj ^LU ; Zetterberg, Henrik ^LU ; Mattsson, Niklas ^LU and Darin, Niklas (2019) In Mitochondrion 46. p.228-235
- Contribution to journal › Article
2018
Mark NAD⁺ repletion produces no therapeutic effect in mice with respiratory chain complex III deficiency and chronic energy deprivation
Purhonen, Janne ; Rajendran, Jayasimman ; Tegelberg, Saara ^LU ; Smolander, Olli Pekka ; Pirinen, Eija ; Kallijärvi, Jukka ^LU and Fellman, Vineta ^LU (2018) In FASEB Journal 32(11). p.5913-5926
- Contribution to journal › Article
Mark Mitochondrial medicine. New strategies to evaluate drug toxicity and develop pharmacological protection of the cell’s powerhouse.
Piel, Sarah ^LU (2018)
- Thesis › Doctoral thesis (compilation)
Mark Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population?
Ghorbel, Raouia ; Ben Salah, Ghada ; Ghorbel, Rania ; Ben Mahmoud, Afif ; Chamkha, Imen ^LU ; Mkaouar-Rebai, Emna ; Ammar-Keskes, Leila and Fakhfakh, Faiza (2018) In Environmental Science and Pollution Research 25(6). p.5779-5787
- Contribution to journal › Article
2017
Mark Hospitalizations for mitochondrial disease across the lifespan in the U.S
McCormack, Shana E. ; Xiao, Rui ; Kilbaugh, Todd J ; Karlsson, Michael ^LU ; Ganetzky, Rebecca D. ; Cunningham, Zarazuela Zolkipli ; Goldstein, Amy ; Falk, Marni J. and Damrauer, Scott M. (2017) In Molecular Genetics and Metabolism 121(2). p.119-126
- Contribution to journal › Article

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