Longo N - Search Results

1

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.

2

Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI.

Pasquali M, Still MJ, Vales T, Rosen RI, Evinger JD, Dembure PP, Longo N, Elsas LJ. Pasquali M, et al. Among authors: longo n. Proc Assoc Am Physicians. 1997 Jan;109(1):33-41. Proc Assoc Am Physicians. 1997. PMID: 9010914

3

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.

Wang Y, Ye J, Ganapathy V, Longo N. Wang Y, et al. Among authors: longo n. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2356-60. doi: 10.1073/pnas.96.5.2356. Proc Natl Acad Sci U S A. 1999. PMID: 10051646 Free PMC article.

4

Functional characterization of the carnitine transporter defective in primary carnitine deficiency.

Scaglia F, Wang Y, Longo N. Scaglia F, et al. Among authors: longo n. Arch Biochem Biophys. 1999 Apr 1;364(1):99-106. doi: 10.1006/abbi.1999.1118. Arch Biochem Biophys. 1999. PMID: 10087170

5

Primary and secondary alterations of neonatal carnitine metabolism.

Scaglia F, Longo N. Scaglia F, et al. Among authors: longo n. Semin Perinatol. 1999 Apr;23(2):152-61. doi: 10.1016/s0146-0005(99)80047-0. Semin Perinatol. 1999. PMID: 10331466 Review.

6

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

7

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.

Wang Y, Kelly MA, Cowan TM, Longo N. Wang Y, et al. Among authors: longo n. Hum Mutat. 2000;15(3):238-45. doi: 10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3. Hum Mutat. 2000. PMID: 10679939

8

Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency.

Wang Y, Meadows TA, Longo N. Wang Y, et al. Among authors: longo n. J Biol Chem. 2000 Jul 7;275(27):20782-6. doi: 10.1074/jbc.M000194200. J Biol Chem. 2000. PMID: 10783384 Free article.

9

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.

10

Phenotype and genotype variation in primary carnitine deficiency.

Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N. Wang Y, et al. Among authors: longo n. Genet Med. 2001 Nov-Dec;3(6):387-92. doi: 10.1097/00125817-200111000-00002. Genet Med. 2001. PMID: 11715001 Free article.

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