Ficicioglu C - Search Results

1

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).

Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M. Brower A, et al. Among authors: ficicioglu c. Front Genet. 2022 Jul 22;13:867337. doi: 10.3389/fgene.2022.867337. eCollection 2022. Front Genet. 2022. PMID: 35938011 Free PMC article.

2

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Chinsky JM, et al. Among authors: ficicioglu c. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.101. Epub 2017 Aug 3. Genet Med. 2017. PMID: 28771246 Free PMC article. Review.

3

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J. Berry SA, et al. Among authors: ficicioglu c. Mol Genet Metab. 2017 Nov;122(3):46-53. doi: 10.1016/j.ymgme.2017.09.002. Epub 2017 Sep 8. Mol Genet Metab. 2017. PMID: 28916119 Free article.

4

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.

Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ. Kwon JM, et al. Among authors: ficicioglu c. Orphanet J Rare Dis. 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x. Orphanet J Rare Dis. 2018. PMID: 29391017 Free PMC article. Review.

5

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders.

Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N. Berry SA, et al. Among authors: ficicioglu c. Mol Genet Metab. 2018 Nov;125(3):251-257. doi: 10.1016/j.ymgme.2018.09.001. Epub 2018 Sep 4. Mol Genet Metab. 2018. PMID: 30217721 Free article.

6

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.

Campbell CD, Ganesh J, Ficicioglu C. Campbell CD, et al. Among authors: ficicioglu c. Haematologica. 2005 Dec;90(12 Suppl):ECR45. Haematologica. 2005. PMID: 16464760

7

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Oglesbee D, et al. Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097/gim.0b013e31802f78d6. Genet Med. 2007. PMID: 17304052

8

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.

Ahrens-Nicklas RC, Pyle LC, Ficicioglu C. Ahrens-Nicklas RC, et al. Among authors: ficicioglu c. Genet Med. 2016 Dec;18(12):1315-1319. doi: 10.1038/gim.2016.49. Epub 2016 May 5. Genet Med. 2016. PMID: 27148938 Free PMC article.

9

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. Dai H, et al. Among authors: ficicioglu c. Clin Genet. 2017 Apr;91(4):634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5. Clin Genet. 2017. PMID: 27743463

10

Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.

Ahrens-Nicklas RC, Whitaker AM, Kaplan P, Cuddapah S, Burfield J, Blair J, Brochi L, Yudkoff M, Ficicioglu C. Ahrens-Nicklas RC, et al. Among authors: ficicioglu c. Genet Med. 2017 Aug;19(8):926-935. doi: 10.1038/gim.2016.214. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151490 Free PMC article.

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