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Page 1
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.
Potter JE, Petts G, Ghosh A, White FJ, Kinsella JL, Hughes S, Roberts J, Hodgkinson A, Brammeier K, Church H, Merrigan C, Hughes J, Evans P, Campbell H, Bonney D, Newman WG, Bigger BW, Broomfield A, Jones SA, Wynn RF. Potter JE, et al. Among authors: newman wg. Orphanet J Rare Dis. 2021 May 21;16(1):235. doi: 10.1186/s13023-021-01849-7. Orphanet J Rare Dis. 2021. PMID: 34020687 Free PMC article.
Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.
Breen C, Mercer J, Jones SA, Jahic A, Heptinstall L, Tylee K, Newman WG, Beetz C. Breen C, et al. Among authors: newman wg. Hum Genome Var. 2016 Oct 6;3:16031. doi: 10.1038/hgv.2016.31. eCollection 2016. Hum Genome Var. 2016. PMID: 27766162 Free PMC article.
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
Madhu R, Beaman GM, Chandler KE, O'Sullivan J, Urquhart JE, Khan N, Martindale E, Briggs TA, Clayton-Smith J, Higgs J, Batra G, Kerr B, Woolf AS, Newman WG. Madhu R, et al. Among authors: newman wg. Eur J Med Genet. 2020 Sep;63(9):103974. doi: 10.1016/j.ejmg.2020.103974. Epub 2020 Jun 12. Eur J Med Genet. 2020. PMID: 32534991 Free PMC article.
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR, Beaman GM, Teik KW, Sidhu S, Sayer JA, Cordell HJ, Thomas HB, Wood K, Stuart HM, Woolf AS, Newman WG. Harkness JR, et al. Among authors: newman wg. Kidney Int Rep. 2020 Jul 14;5(10):1823-1827. doi: 10.1016/j.ekir.2020.07.001. eCollection 2020 Oct. Kidney Int Rep. 2020. PMID: 33102976 Free PMC article. No abstract available.
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG. Banka S, et al. Among authors: newman wg. Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004. Am J Hum Genet. 2011. PMID: 21310276 Free PMC article.
336 results