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Author/Creator Amundsen, Silja S.

1. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Issue 2 (30th November 2020)

Authors:
Wintjes, Liesbeth T. M.; Kava, Maina; van den Brandt, Frans A.; van den Brand, Mariël A. M.; Lapina, Oksana; Bliksrud, Yngve T.; Kulseth, Mari A.; Amundsen, Silja S.; Selberg, Terje R.; Ybema‐Antoine, Marion; Tutakhel, Omar A. Z.; Greed, Lawrence; Thorburn, David R.; Tangeraas, Trine; Balasubrama...
Journal:
Human mutation
Issue:
Volume 42:Issue 2(2021)
Page Start:
135
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Issue 2 (30th November 2020)

Authors:
Wintjes, Liesbeth T. M.; Kava, Maina; van den Brandt, Frans A.; van den Brand, Mariël A. M.; Lapina, Oksana; Bliksrud, Yngve T.; Kulseth, Mari A.; Amundsen, Silja S.; Selberg, Terje R.; Ybema‐Antoine, Marion; Tutakhel, Omar A. Z.; Greed, Lawrence; Thorburn, David R.; Tangeraas, Trine; Balasubrama...
Journal:
Human mutation
Issue:
Volume 42:Issue 2(2021)
Page Start:
135
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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