Scaglia F - Search Results

1

Citrin deficiency, a perplexing global disorder.

Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ. Dimmock D, et al. Among authors: scaglia f. Mol Genet Metab. 2009 Jan;96(1):44-9. doi: 10.1016/j.ymgme.2008.10.007. Epub 2008 Nov 25. Mol Genet Metab. 2009. PMID: 19036621

2

An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency.

Scaglia F, Zheng Q, O'Brien WE, Henry J, Rosenberger J, Reeds P, Lee B. Scaglia F, et al. Pediatrics. 2002 Jan;109(1):150-2. doi: 10.1542/peds.109.1.150. Pediatrics. 2002. PMID: 11773558

3

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.

Scaglia F, Carter S, O'Brien WE, Lee B. Scaglia F, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85. doi: 10.1016/j.ymgme.2003.11.017. Mol Genet Metab. 2004. PMID: 15050979

4

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.

Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Scaglia F, et al. J Nutr. 2004 Oct;134(10 Suppl):2775S-2782S; discussion 2796S-2797S. doi: 10.1093/jn/134.10.2775S. J Nutr. 2004. PMID: 15465784 Free article. Review.

5

Creatine metabolism in combined methylmalonic aciduria and homocystinuria.

Bodamer OA, Sahoo T, Beaudet AL, O'Brien WE, Bottiglieri T, Stöckler-Ipsiroglu S, Wagner C, Scaglia F. Bodamer OA, et al. Among authors: scaglia f. Ann Neurol. 2005 Apr;57(4):557-60. doi: 10.1002/ana.20419. Ann Neurol. 2005. PMID: 15786446

6

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.

Leimkühler S, Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, Szymczak I, Schupp P, Hahnewald R, Reiss J. Leimkühler S, et al. Among authors: scaglia f. Hum Genet. 2005 Oct;117(6):565-70. doi: 10.1007/s00439-005-1341-9. Epub 2005 Jul 14. Hum Genet. 2005. PMID: 16021469

7

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.

Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. Scaglia F, et al. Genet Med. 2006 Oct;8(10):641-52. doi: 10.1097/01.gim.0000237781.10594.d1. Genet Med. 2006. PMID: 17079881 Free article.

8

Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet.

Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F. Dimmock D, et al. Among authors: scaglia f. Pediatrics. 2007 Mar;119(3):e773-7. doi: 10.1542/peds.2006-1950. Pediatrics. 2007. PMID: 17332192

9

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

10

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC. Wong LJ, et al. Among authors: scaglia f. Clin Chem. 2008 Jul;54(7):1141-8. doi: 10.1373/clinchem.2008.103721. Epub 2008 May 16. Clin Chem. 2008. PMID: 18487280

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