Search Results - "Keng, Wee T"

Treatment of Lesch–Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl by Chen, Bee C, Balasubramaniam, Shanti, McGown, Ivan N, O’Neill, J. Patrick, Chng, Gaik S, Keng, Wee T, Ngu, Lock H, Duley, John A

“…Abstract Background : Lesch–Nyhan disease (LND) is a rare X-linked recessive neurogenetic disorder caused by deficiency of the purine salvage enzyme…”
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Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation by Batstone, Paul J., Simpson, Sheila, Bonthron, David T., Keng, Wee T., Hamilton, Doreen, Forsyth, Linda, Sales, Mark, Pratt, Norman, Goudie, David

“…We report a seven generation family in which a 2;11 chromosome translocation is segregating. Both unbalanced segregants have been found in the family, and…”
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