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382 results
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Biochemical abnormalities in Pearson syndrome.
Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N. Crippa BL, et al. Among authors: longo n. Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939. Am J Med Genet A. 2015. PMID: 25691415
Genotype-phenotype correlation in inherited severe insulin resistance.
Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D. Longo N, et al. Hum Mol Genet. 2002 Jun 1;11(12):1465-75. doi: 10.1093/hmg/11.12.1465. Hum Mol Genet. 2002. PMID: 12023989
Mitochondrial encephalopathy.
Longo N. Longo N. Neurol Clin. 2003 Nov;21(4):817-31. doi: 10.1016/s0733-8619(03)00015-x. Neurol Clin. 2003. PMID: 14743651 Review.
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N. Iacobazzi V, et al. Among authors: longo n. Am J Med Genet A. 2004 Apr 15;126A(2):150-5. doi: 10.1002/ajmg.a.20573. Am J Med Genet A. 2004. PMID: 15057979
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.
McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF. McKinney JT, et al. Among authors: longo n. Mol Genet Metab. 2004 Jun;82(2):112-20. doi: 10.1016/j.ymgme.2004.04.004. Mol Genet Metab. 2004. PMID: 15171998
Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.
Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N. Stevenson DA, et al. Among authors: longo n. Am J Med Genet A. 2004 Sep 15;130A(1):88-91. doi: 10.1002/ajmg.a.30200. Am J Med Genet A. 2004. PMID: 15368501
Metabolic changes associated with hyperammonemia in patients with propionic acidemia.
Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N. Filipowicz HR, et al. Among authors: longo n. Mol Genet Metab. 2006 Jun;88(2):123-30. doi: 10.1016/j.ymgme.2005.11.016. Epub 2006 Jan 10. Mol Genet Metab. 2006. PMID: 16406646
Inborn errors of metabolism: new challenges with expanded newborn screening programs.
Longo N. Longo N. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):61-3. doi: 10.1002/ajmg.c.30085. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602098 Review. No abstract available.
Biochemical findings in common inborn errors of metabolism.
Pasquali M, Monsen G, Richardson L, Alston M, Longo N. Pasquali M, et al. Among authors: longo n. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):64-76. doi: 10.1002/ajmg.c.30086. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602099 Review.
Glutaric acidemia type 1.
Hedlund GL, Longo N, Pasquali M. Hedlund GL, et al. Among authors: longo n. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602100 Free PMC article. Review.
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