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Hertzog, A, Selvanathan, A, Pandithan, D, Kim, W, Kava, MP, Boneh, A, Coman, D, Tolun, AA, Bhattacharya, K.
3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.
63(6)
:
568 -574
2022
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O’Connor, M, Moreno-Betancur, M, Goldfeld, S, Wake, M, Patton, G, Dwyer, T, Tang, MLK, Saffery, R, Craig, JM, Loke, J, et al.
Data Resource Profile: Melbourne Children’s LifeCourse initiative (LifeCourse).
International Journal of Epidemiology
51(5)
:
e229 -e244
2022
view publication
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Russi, AS, Donoghue, S, Boneh, A, Manara, R, Burlina, AB, Burlina, AP.
Malignant brain tumors in patients with glutaric aciduria type I.
Molecular Genetics and Metabolism
125(3)
:
276 -280
2018
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Donoghue, SE, Pitt, JJ, Boneh, A, White, SM.
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.
Journal of Pediatric Endocrinology and Metabolism
31(4)
:
451 -459
2018
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Crowe, L, Anderson, V, Hardikar, W, Boneh, A.
Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency.
43:
19 -25
2018
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