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The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.
Taylor JL, Clinard K, Powell CM, Rehder C, Young SP, Bali D, Beckloff SE, Gehtland LM, Kemper AR, Lee S, Millington D, Patel HS, Shone SM, Woodell C, Zimmerman SJ, Bailey DB Jr, Muenzer J. Taylor JL, et al. Among authors: muenzer j. J Pediatr. 2019 Aug;211:193-200.e2. doi: 10.1016/j.jpeds.2019.04.027. Epub 2019 May 24. J Pediatr. 2019. PMID: 31133280
Mucopolysaccharidosis I: management and treatment guidelines.
Muenzer J, Wraith JE, Clarke LA; International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Muenzer J, et al. Pediatrics. 2009 Jan;123(1):19-29. doi: 10.1542/peds.2008-0416. Pediatrics. 2009. PMID: 19117856
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
Couser NL, Marchuk DS, Smith LD, Arreola A, Kaiser-Rogers KA, Muenzer J, Pandya A, Gucsavas-Calikoglu M, Powell CM. Couser NL, et al. Among authors: muenzer j. Am J Med Genet A. 2017 Oct;173(10):2720-2724. doi: 10.1002/ajmg.a.38351. Epub 2017 Jul 27. Am J Med Genet A. 2017. PMID: 28749033
Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.
Van Hove JL, Kishnani P, Muenzer J, Wenstrup RJ, Summar ML, Brummond MR, Lachiewicz AM, Millington DS, Kahler SG. Van Hove JL, et al. Among authors: muenzer j. Am J Med Genet. 1995 Dec 4;59(4):444-53. doi: 10.1002/ajmg.1320590410. Am J Med Genet. 1995. PMID: 8585564
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).
Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF. Wraith JE, et al. Among authors: muenzer j. J Pediatr. 2004 May;144(5):581-8. doi: 10.1016/j.jpeds.2004.01.046. J Pediatr. 2004. PMID: 15126990 Clinical Trial.
155 results