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Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
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
Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.
Carson VJ, Puffenberger EG, Bowser LE, Brigatti KW, Young M, Korulczyk D, Rodrigues AS, Loeven KK, Strauss KA.
Carson VJ, et al. Among authors: bowser le.
PLoS One. 2018 Sep 6;13(9):e0202104. doi: 10.1371/journal.pone.0202104. eCollection 2018.
PLoS One. 2018.
PMID: 30188899
Free PMC article.
Clinical Trial.
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Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.
Strauss KA, Ahlfors CE, Soltys K, Mazareigos GV, Young M, Bowser LE, Fox MD, Squires JE, McKiernan P, Brigatti KW, Puffenberger EG, Carson VJ, Vreman HJ.
Strauss KA, et al. Among authors: bowser le.
Hepatology. 2020 Jun;71(6):1923-1939. doi: 10.1002/hep.30959. Epub 2020 Feb 5.
Hepatology. 2020.
PMID: 31553814
Free PMC article.
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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.
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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.
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NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
Iffland PH, Everett ME, Cobb-Pitstick KM, Bowser LE, Barnes AE, Babus JK, Romanowski AJ, Baybis M, Elziny S, Puffenberger EG, Gonzaga-Jauregui C, Poulopoulos A, Carson VJ, Crino PB.
Iffland PH, et al. Among authors: bowser le.
Brain. 2022 Nov 21;145(11):3872-3885. doi: 10.1093/brain/awac044.
Brain. 2022.
PMID: 35136953
Free PMC article.
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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.
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