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Boneh, A, Baumgartner, M, Hayman, M, Peters, H.
Methylcrotonyl‐CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult.
Journal of Inherited Metabolic Disease
28(6)
:
1139 -1140
2005
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Wilcox, G, Strauss, BJG, Francis, DEM, Upton, H, Boneh, A.
Body composition in young adults with inborn errors of protein metabolism—A pilot study.
Journal of Inherited Metabolic Disease
28(5)
:
613 -626
2005
view publication
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Panetta, J, Gibson, K, Kirby, D, Thorburn, D, Boneh, A.
The Importance of Liver Biopsy in the Investigation of Possible Mitochondrial Respiratory Chain Disease.
Neuropediatrics
36(4)
:
256 -259
2005
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Boneh, A, Korman, SH, Sato, K, Kanno, J, Matsubara, Y, Lerer, I, Ben-Neriah, Z, Kure, S.
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
Journal of Human Genetics
50(5)
:
230 -234
2005
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Caciotti, A, Donati, MA, Boneh, A, d'Azzo, A, Federico, A, Parini, R, Antuzzi, D, Bardelli, T, Nosi, D, Kimonis, V, et al.
Role of β‐galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1‐gangliosidosis.
Human Mutation
25(3)
:
285 -292
2005
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