-
Barcia, G, Pandithan, D, Ruzzenente, B, Assouline, Z, Pennisi, A, Ormieres, C, Besmond, C, Roux, C-J, Boddaert, N, Desguerre, I, et al.
Biallelic IARS2 mutations presenting as sideroblastic anemia..
Haematologica
106(4)
:
1220 -1225
2021
view publication
-
Jackson, TD, Hock, DH, Fujihara, KM, Palmer, CS, Frazier, AE, Low, YC, Kang, Y, Ang, C-S, Clemons, NJ, Thorburn, DR, et al.
The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism..
Mol Biol Cell
32(6)
:
475 -491
2021
view publication
-
Wintjes, LTM, Kava, M, van den Brandt, FA, van den Brand, MAM, Lapina, O, Bliksrud, YT, Kulseth, MA, Amundsen, SS, Selberg, TR, Ybema-Antoine, M, et al.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction..
Hum Mutat
42(2)
:
135 -141
2021
view publication
-
Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, Brett, GR, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al.
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10..
Hum Mutat
42(1)
:
19 -24
2021
view publication
-
Ferreira, CR, Rahman, S, Keller, M, Zschocke, J, ICIMD Advisory Group.
An international classification of inherited metabolic disorders (ICIMD)..
J Inherit Metab Dis
44(1)
:
164 -177
2021
view publication