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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: chapman ka. 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.
Neurologic considerations in propionic acidemia.
Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL. Schreiber J, et al. Among authors: chapman ka. Mol Genet Metab. 2012 Jan;105(1):10-5. doi: 10.1016/j.ymgme.2011.10.003. Epub 2011 Oct 19. Mol Genet Metab. 2012. PMID: 22078457 Review.
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Vanderver A, et al. Among authors: chapman ka. Am J Med Genet A. 2014 Mar;164A(3):627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375884 Free PMC article.
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. Simons C, et al. Among authors: chapman ka. Am J Hum Genet. 2015 Apr 2;96(4):675-81. doi: 10.1016/j.ajhg.2015.02.012. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817015 Free PMC article.
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Summerlin ML, Regier DS, Fraser JL, Chapman KA, Kafashzadeh D, Billington C Jr, Kisling M, Grochowsky A, Ah Mew N, Shur N. Summerlin ML, et al. Among authors: chapman ka. Am J Med Genet A. 2021 Feb;185(2):500-507. doi: 10.1002/ajmg.a.62000. Epub 2020 Dec 10. Am J Med Genet A. 2021. PMID: 33300687
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Billington CJ Jr, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K. Billington CJ Jr, et al. Among authors: chapman ka. Am J Med Genet A. 2022 Sep;188(9):2738-2749. doi: 10.1002/ajmg.a.62893. Epub 2022 Jul 7. Am J Med Genet A. 2022. PMID: 35799415 Free PMC article.
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