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Pomponio, RJ
Ozand, PT
Al Essa, M
Wolf, B
Citation: Rj. Pomponio et al., Novel mutations in children with profound biotinidase deficiency from Saudi Arabia, J INH MET D, 23(2), 2000, pp. 185-187
Authors:
Blanton, SH
Pandya, A
Landa, BL
Javaheri, R
Xia, XJ
Nance, WE
Pomponio, RJ
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Swango, KL
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Gulden, H
Coskun, T
Tokatli, A
Ozalp, I
Wolf, B
Citation: Sh. Blanton et al., Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations, HUMAN HERED, 50(2), 2000, pp. 102-111
Authors:
Norrgard, KJ
Pomponio, RJ
Hymes, J
Wolf, B
Citation: Kj. Norrgard et al., Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children, PEDIAT RES, 46(1), 1999, pp. 20-27