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Year Number of Results
2018 5
2019 1
2020 6
2021 3
2022 1
2024 1

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Page 1
In memoriam.
Van Hove JLK, Thomas JA, Baker PR 2nd, Larson AA. Van Hove JLK, et al. Among authors: larson aa. J Inherit Metab Dis. 2018 May 7. doi: 10.1007/s10545-018-0191-2. Online ahead of print. J Inherit Metab Dis. 2018. PMID: 29736632 No abstract available.
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.
Kripps KA, Baker PR 2nd, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR 2nd, McCandless SE, Larson AA, Kochar A, Stillman CF, Wymore EM, Hendricks EG, Woontner M, Van Hove JLK. Kripps KA, et al. Among authors: larson aa. Mol Genet Metab. 2021 Jul;133(3):231-241. doi: 10.1016/j.ymgme.2021.04.007. Epub 2021 May 7. Mol Genet Metab. 2021. PMID: 33985889 Free article. Review.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F. Van Damme T, et al. Among authors: larson aa. Hum Mol Genet. 2018 Oct 15;27(20):3475-3487. doi: 10.1093/hmg/ddy234. Hum Mol Genet. 2018. PMID: 29931299
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA. Kripps K, et al. Among authors: larson aa. Mol Genet Metab. 2020 May;130(1):58-64. doi: 10.1016/j.ymgme.2020.03.001. Epub 2020 Mar 6. Mol Genet Metab. 2020. PMID: 32173240 Free PMC article.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG); Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. Ng BG, et al. Among authors: larson aa. J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5. J Inherit Metab Dis. 2020. PMID: 32681751 Free PMC article.
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Larson AA, et al. Mitochondrion. 2019 Jan;44:58-64. doi: 10.1016/j.mito.2018.01.001. Epub 2018 Jan 4. Mitochondrion. 2019. PMID: 29307858 Free PMC article.
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Starr MC, Chang IJ, Finn LS, Sun A, Larson AA, Goebel J, Hanevold C, Thies J, Van Hove JLK, Hingorani SR, Lam C. Starr MC, et al. Among authors: larson aa. Pediatr Nephrol. 2018 Jul;33(7):1257-1261. doi: 10.1007/s00467-018-3937-z. Epub 2018 Apr 10. Pediatr Nephrol. 2018. PMID: 29637272 Free PMC article.
15 results