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Page 1
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Bowser LE, et al. Mol Genet Metab. 2019 Apr;126(4):475-488. doi: 10.1016/j.ymgme.2019.01.013. Epub 2019 Jan 21. Mol Genet Metab. 2019. PMID: 30691927
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH. Strauss KA, et al. Among authors: bowser le. Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16. Mol Genet Metab. 2020. PMID: 31980395 Free article.
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Hailey J, Chopko S, Puffenberger EG, Brigatti KW, Miller F, Morton DH. Strauss KA, et al. Among authors: bowser le. Mol Genet Metab. 2020 Nov;131(3):325-340. doi: 10.1016/j.ymgme.2020.09.007. Epub 2020 Oct 4. Mol Genet Metab. 2020. PMID: 33069577 Free article.
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Strauss KA, Carson VJ, Bolettieri E, Everett M, Bollinger A, Bowser LE, Beiler K, Young M, Edvardson S, Fraenkel N, D'Amico A, Bertini E, Lingappa L, Chowdhury D, Lowes LP, Iammarino M, Alfano LN, Brigatti KW. Strauss KA, et al. Among authors: bowser le. Ann Clin Transl Neurol. 2023 Nov;10(11):1972-1984. doi: 10.1002/acn3.51884. Epub 2023 Aug 25. Ann Clin Transl Neurol. 2023. PMID: 37632133 Free PMC article.