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Author/Creator Kava, Maina

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
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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) ↗

3. Benefits of powered standing wheelchair devices for adolescents with Duchenne muscular dystrophy in the first year of use. (3rd July 2020)

Authors:
Bayley, Klair; Parkinson, Stephanie; Jacoby, Peter; Cross, Donna; Morris, Sue; Vorster, Nitamarie; Schofield, Cara; Kava, Maina; Siafarikas, Aris; Evans, Kerry; Gaynor, Odette; Chiu, Linda; Ryan, Monique M; Cairns, Anita; Clark, Damian; Downs, Jenny
Journal:
Journal of paediatrics and child health
Issue:
Volume 56:Number 9(2020)
Page Start:
1419
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations. Issue 1 (19th November 2021)

Authors:
Sue, Carolyn M.; Balasubramaniam, Shanti; Bratkovic, Drago; Bonifant, Catherine; Christodoulou, John; Coman, David; Crawley, Karen; Edema‐Hildebrand, Fabienne; Ellaway, Carolyn; Ghaoui, Roula; Kava, Maina; Kearns, Lisa S.; Lee, Joy; Liang, Christina; Mackey, David A.; Murray, Sean; Needham, Merri...
Journal:
Internal medicine journal
Issue:
Volume 52:Issue 1(2022)
Page Start:
110
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗