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Bali, DS, Goldstein, JL, Fredrickson, K, Rehder, C, Boney, A, Austin, S, Weinstein, DA, Lutz, R, Boneh, A, Kishnani, PS.
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Molecular Genetics and Metabolism
111(3)
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309 -313
2014
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van Dongen, S, Brown, RM, Brown, GK, Thorburn, DR, Boneh, A.
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.
15:
13 -27
2014
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Brown, A, Crowe, L, Beauchamp, MH, Anderson, V, Boneh, A.
Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series.
18:
125 -134
2014
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Lim, SC, Friemel, M, Marum, JE, Tucker, EJ, Bruno, DL, Riley, LG, Christodoulou, J, Kirk, EP, Boneh, A, DeGennaro, CM, et al.
Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Human Molecular Genetics
22(22)
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4460 -4473
2013
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Costa, AL, Le Bachelier, C, Rötig, A, Boneh, A, De Lonlay, P, Tarnopolsky, MA, Thorburn, D, Bastin, J, Djouadi, F.
Resveratrol improves mitochondrial functions in respiratory chain-deficient cells.
Mitochondrion
13(6)
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902 -903
2013
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