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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Lam C, et al. Among authors: patterson mc. Mol Genet Metab. 2024 Aug;142(4):108509. doi: 10.1016/j.ymgme.2024.108509. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38959600
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Adang LA, et al. Among authors: patterson mc. Cytotherapy. 2024 Jul;26(7):739-748. doi: 10.1016/j.jcyt.2024.03.487. Epub 2024 Apr 1. Cytotherapy. 2024. PMID: 38613540 Review.
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E. Muthusamy K, et al. Among authors: patterson mc. Genet Med. 2024 Feb;26(2):101027. doi: 10.1016/j.gim.2023.101027. Epub 2023 Nov 10. Genet Med. 2024. PMID: 37955240 Free article.
Author Correction: A Tunguska sized airburst destroyed Tall el-Hammam a Middle Bronze Age city in the Jordan Valley near the Dead Sea.
Bunch TE, LeCompte MA, Adedeji AV, Wittke JH, Burleigh TD, Hermes RE, Mooney C, Batchelor D, Wolbach WS, Kathan J, Kletetschka G, Patterson MCL, Swindel EC, Witwer T, Howard GA, Mitra S, Moore CR, Langworthy K, Kennett JP, West A, Silvia PJ. Bunch TE, et al. Among authors: patterson mcl. Sci Rep. 2023 May 22;13(1):8280. doi: 10.1038/s41598-023-35266-6. Sci Rep. 2023. PMID: 37217562 Free PMC article. No abstract available.
186 results