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Page 1
Pompe disease diagnosis and management guideline.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Kishnani PS, et al. Among authors: patterson mc. Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3. Genet Med. 2006. PMID: 16702877 Free PMC article. No abstract available.
Research challenges in central nervous system manifestations of inborn errors of metabolism.
Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Dickson PI, et al. Among authors: patterson mc. Mol Genet Metab. 2011 Mar;102(3):326-38. doi: 10.1016/j.ymgme.2010.11.164. Epub 2010 Dec 2. Mol Genet Metab. 2011. PMID: 21176882 Free PMC article. Review.
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 Apr 1:S1465-3249(24)00579-6. doi: 10.1016/j.jcyt.2024.03.487. Online ahead of print. Cytotherapy. 2024. PMID: 38613540
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.
Hematopoietic cell transplantation for sialidosis type I.
Gupta AO, Patterson MC, Wood T, Eisengart JB, Orchard PJ, Lund TC. Gupta AO, et al. Among authors: patterson mc. Mol Genet Metab Rep. 2021 Dec 8;30:100832. doi: 10.1016/j.ymgmr.2021.100832. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 35242566 Free PMC 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. 2022 Feb 22;12(1):3265. doi: 10.1038/s41598-022-06266-9. Sci Rep. 2022. PMID: 35194042 Free PMC article. No abstract available.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T. Bolton SC, et al. Among authors: patterson mc. Orphanet J Rare Dis. 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4. Orphanet J Rare Dis. 2022. PMID: 35164809 Free PMC article.
185 results