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Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency.
Nasseri Moghaddam Z, Reinhardt EK, Thurm A, Potter BK, Smith M, Graham C, Tiller BH, Baker SA, Bilder DA, Bogar R, Britz J, Cafferty R, Coller DP, DeGrauw TJ, Hall V, Lipshutz GS, Longo N, Mercimek-Andrews S, Miller JS, Pasquali M, Salomons GS, Schulze A, Wheaton CP, Williams KF, Young SP, Li J, Balog S, Selucky T, Stockler-Ipsiroglu S, Wallis H. Nasseri Moghaddam Z, et al. Among authors: longo n. medRxiv [Preprint]. 2024 Sep 10:2024.09.06.24313213. doi: 10.1101/2024.09.06.24313213. medRxiv. 2024. PMID: 39371127 Free PMC article. Preprint.
Creatine transporter deficiency in two half-brothers.
Ardon O, Amat di San Filippo C, Salomons GS, Longo N. Ardon O, et al. Among authors: longo n. Am J Med Genet A. 2010 Aug;152A(8):1979-83. doi: 10.1002/ajmg.a.33551. Am J Med Genet A. 2010. PMID: 20602486
Disorders of creatine transport and metabolism.
Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M. Longo N, et al. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):72-8. doi: 10.1002/ajmg.c.30292. Epub 2011 Feb 9. Am J Med Genet C Semin Med Genet. 2011. PMID: 21308988
Newborn screening and inborn errors of metabolism.
Pasquali M, Longo N. Pasquali M, et al. Among authors: longo n. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):1-2. doi: 10.1002/ajmg.c.30290. Epub 2011 Feb 10. Am J Med Genet C Semin Med Genet. 2011. PMID: 21337697 No abstract available.
Creatine metabolism in patients with urea cycle disorders.
Ingoglia F, Chong JL, Pasquali M, Longo N. Ingoglia F, et al. Among authors: longo n. Mol Genet Metab Rep. 2021 Aug 23;29:100791. doi: 10.1016/j.ymgmr.2021.100791. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34471603 Free PMC article.
662 results