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Tomoeda, K, Awata, H, Matsuura, T, Matsuda, I, Ploechl, E, Milovac, T, Boneh, A, Scott, CR, Danks, DM, Endo, F.
Mutations in the 4-Hydroxyphenylpyruvic Acid Dioxygenase Gene Are Responsible for Tyrosinemia Type III and Hawkinsinuria.
Molecular Genetics and Metabolism
71(3)
:
506 -510
2000
view publication
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Ben‐Yaacov, A, Minichiello, J, Newgreen, D, Boneh, A.
Perturbation of protein kinase C subtype activation in X‐ALD fibroblasts: Possible involvement of protein kinase C in the pathogenesis of adrenoleukodystrophy.
Journal of Inherited Metabolic Disease
23(4)
:
416 -420
2000
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Peters, H, Cleary, M, Boneh, A.
Succinic semialdehyde dehydrogenase deficiency in siblings: Clinical heterogeneity and response to early treatment.
Journal of Inherited Metabolic Disease
22(2)
:
198 -199
1999
view publication
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Saleem, R, Gofin, R, Ben‐Neriah, Z, Boneh, A.
Variables influencing parental perception of inherited metabolic diseases before and after genetic counselling.
Journal of Inherited Metabolic Disease
21(7)
:
769 -780
1998
view publication
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Kure, S, Mandel, H, Rolland, M-O, Sakata, Y, Shinka, T, Drugan, A, Boneh, A, Tada, K, Matsubara, Y, Narisawa, K.
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
Human Genetics
102(4)
:
430 -434
1998
view publication