Scaglia F - Search Results

1

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. Ng BG, et al. Among authors: scaglia f. Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 30817854 Free PMC article.

2

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

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

3

Primary and secondary alterations of neonatal carnitine metabolism.

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

4

Insulin increases the turnover rate of Na+-K+-ATPase in human fibroblasts.

Longo N, Scaglia F, Wang Y. Longo N, et al. Among authors: scaglia f. Am J Physiol Cell Physiol. 2001 Apr;280(4):C912-9. doi: 10.1152/ajpcell.2001.280.4.C912. Am J Physiol Cell Physiol. 2001. PMID: 11245608 Free article.

5

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.

Eklund EA, Sun L, Westphal V, Northrop JL, Freeze HH, Scaglia F. Eklund EA, et al. Among authors: scaglia f. J Pediatr. 2005 Dec;147(6):847-50. doi: 10.1016/j.jpeds.2005.07.042. J Pediatr. 2005. PMID: 16356445

6

Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.

Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F. Moretti P, et al. Among authors: scaglia f. J Autism Dev Disord. 2008 Jul;38(6):1170-7. doi: 10.1007/s10803-007-0492-z. Epub 2007 Nov 20. J Autism Dev Disord. 2008. PMID: 18027081 Free PMC article.

7

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Dimmock DP, et al. Among authors: scaglia f. Hum Mutat. 2008 Feb;29(2):330-1. doi: 10.1002/humu.9519. Hum Mutat. 2008. PMID: 18205204

8

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.

Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ. Dhar SU, et al. Among authors: scaglia f. Mol Genet Metab. 2009 Jan;96(1):38-43. doi: 10.1016/j.ymgme.2008.10.008. Epub 2008 Nov 21. Mol Genet Metab. 2009. PMID: 19027335

9

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH. Wat MJ, et al. Among authors: scaglia f. Am J Med Genet A. 2009 Aug;149A(8):1661-77. doi: 10.1002/ajmg.a.32896. Am J Med Genet A. 2009. PMID: 19606479 Free PMC article.

10

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ. Li FY, et al. Among authors: scaglia f. Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311. Hum Mutat. 2010. PMID: 20574985

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