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Page 1
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Fraser JL, Vanderver A, Yang S, Chang T, Cramp L, Vezina G, Lichter-Konecki U, Cusmano-Ozog KP, Smpokou P, Chapman KA, Zand DJ. Fraser JL, et al. Among authors: zand dj. Mol Genet Metab Rep. 2014 Feb 11;1:66-70. doi: 10.1016/j.ymgmr.2013.12.007. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896076 Free PMC article.
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Deardorff MA, et al. Among authors: zand dj. Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524659 Free PMC article.
Malignancy in Noonan syndrome and related disorders.
Smpokou P, Zand DJ, Rosenbaum KN, Summar ML. Smpokou P, et al. Among authors: zand dj. Clin Genet. 2015 Dec;88(6):516-22. doi: 10.1111/cge.12568. Epub 2015 Mar 4. Clin Genet. 2015. PMID: 25683281 Review.
35 results