Longo N - Search Results

1

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.

De Biase I, Viau KS, Liu A, Yuzyuk T, Botto LD, Pasquali M, Longo N. De Biase I, et al. Among authors: longo n. JIMD Rep. 2017;31:63-71. doi: 10.1007/8904_2016_558. Epub 2016 Apr 28. JIMD Rep. 2017. PMID: 27117294 Free PMC article.

2

Progressive decline in insulin levels in Rabson-Mendenhall syndrome.

Longo N, Wang Y, Pasquali M. Longo N, et al. J Clin Endocrinol Metab. 1999 Aug;84(8):2623-9. doi: 10.1210/jcem.84.8.5902. J Clin Endocrinol Metab. 1999. PMID: 10443650

3

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency.

Scaglia F, Wang Y, Singh RH, Dembure PP, Pasquali M, Fernhoff PM, Longo N. Scaglia F, et al. Among authors: longo n. Genet Med. 1998 Nov-Dec;1(1):34-9. doi: 10.1097/00125817-199811000-00008. Genet Med. 1998. PMID: 11261427 Free article.

4

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

5

Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.

Longo N, Fukao T, Singh R, Pasquali M, Barrios RG, Kondo N, Gibson KM. Longo N, et al. J Inherit Metab Dis. 2004;27(5):691-2. doi: 10.1023/b:boli.0000043023.57321.18. J Inherit Metab Dis. 2004. PMID: 15669687

6

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

7

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.

8

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.

9

Disorders of carnitine transport and the carnitine cycle.

Longo N, Amat di San Filippo C, Pasquali M. Longo N, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):77-85. doi: 10.1002/ajmg.c.30087. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602102 Free PMC article. Review.

10

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

Amat di San Filippo C, Pasquali M, Longo N. Amat di San Filippo C, et al. Among authors: longo n. Hum Mutat. 2006 Jun;27(6):513-23. doi: 10.1002/humu.20314. Hum Mutat. 2006. PMID: 16652335

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