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Page 1
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
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.
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. Among authors: heaps ad.
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
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Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG.
Strauss KA, et al. Among authors: heaps ad.
Genet Med. 2018 Jan;20(1):31-41. doi: 10.1038/gim.2017.76. Epub 2017 Jul 20.
Genet Med. 2018.
PMID: 28726809
Free article.
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Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.
Aoki K, Heaps AD, Strauss KA, Tiemeyer M.
Aoki K, et al. Among authors: heaps ad.
Clin Mass Spectrom. 2019 Mar 16;14 Pt B:106-114. doi: 10.1016/j.clinms.2019.03.001. eCollection 2019 Nov.
Clin Mass Spectrom. 2019.
PMID: 34917767
Free PMC article.
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A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.
Strauss KA, Markx S, Georgi B, Paul SM, Jinks RN, Hoshi T, McDonald A, First MB, Liu W, Benkert AR, Heaps AD, Tian Y, Chakravarti A, Bucan M, Puffenberger EG.
Strauss KA, et al. Among authors: heaps ad.
Hum Mol Genet. 2014 Dec 1;23(23):6395-406. doi: 10.1093/hmg/ddu335. Epub 2014 Jun 30.
Hum Mol Genet. 2014.
PMID: 24986916
Free PMC article.
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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA.
Jinks RN, et al. Among authors: heaps ad.
Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11.
Brain. 2015.
PMID: 26070982
Free PMC article.
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