İnci A - Search Results

1

A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Kasapkara ÇS, Tümer L, Gregory A, Ezgü F, İnci A, Derinkuyu BE, Fox R, Rogers C, Hayflick S. Kasapkara ÇS, et al. Among authors: inci a. Acta Neurol Belg. 2019 Dec;119(4):623-625. doi: 10.1007/s13760-018-1026-5. Epub 2018 Oct 8. Acta Neurol Belg. 2019. PMID: 30298423 Free PMC article. No abstract available.

2

Patient With Niemann-Pick Type C Presenting With a Jaw Mass Characterized With Lymph Node Involvement by Niemann-Pick Cells.

İnci A, Okur İ, Esendağli G, Okur A, Olgaç A, Ezgü FS, Tümer L. İnci A, et al. J Pediatr Hematol Oncol. 2018 Apr;40(3):243-245. doi: 10.1097/MPH.0000000000000881. J Pediatr Hematol Oncol. 2018. PMID: 28692552

3

Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks.

Öztürk Z, Hirfanoğlu T, İnci A, Okur İ, Koç E, Tümer L, Arhan E, Aydın K, Serdaroğlu A. Öztürk Z, et al. Among authors: inci a. J Pediatr Neurosci. 2018 Apr-Jun;13(2):276-278. doi: 10.4103/jpn.JPN_144_17. J Pediatr Neurosci. 2018. PMID: 30090157 Free PMC article.

4

Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets.

Olgac A, Inci A, Okur I, Ezgu F, Biberoglu G, Tumer L. Olgac A, et al. Among authors: inci a. J Coll Physicians Surg Pak. 2019 Dec;29(12):1207-1211. doi: 10.29271/jcpsp.2019.12.1207. J Coll Physicians Surg Pak. 2019. PMID: 31839097

5

Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa.

Olgac A, İnci A, Okur İ, Biberoğlu G, Oğuz D, Ezgü FS, Kasapkara ÇS, Aktaş E, Tümer L. Olgac A, et al. Among authors: inci a. Ann Nutr Metab. 2020;76(4):233-241. doi: 10.1159/000509335. Epub 2020 Jul 24. Ann Nutr Metab. 2020. PMID: 32712609

6

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

İnci A, Ergin FBC, Yüce BT, Çiftçi B, Demir E, Buyan N, Okur İ, Biberoğlu G, Öktem RM, Tümer L, Ezgü FS. İnci A, et al. J Bone Miner Metab. 2021 Jul;39(4):598-605. doi: 10.1007/s00774-020-01193-z. Epub 2021 Jan 6. J Bone Miner Metab. 2021. PMID: 33404770

7

Autism: Screening of inborn errors of metabolism and unexpected results.

İnci A, Özaslan A, Okur İ, Biberoğlu G, Güney E, Ezgü FS, Tümer L, İşeri E. İnci A, et al. Autism Res. 2021 May;14(5):887-896. doi: 10.1002/aur.2486. Epub 2021 Feb 19. Autism Res. 2021. PMID: 33605552

8

Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.

İnci A, Cengiz Ergin FB, Biberoğlu G, Okur İ, Ezgü FS, Tümer L. İnci A, et al. J Pediatr Endocrinol Metab. 2021 Apr 6;34(6):805-812. doi: 10.1515/jpem-2020-0655. Print 2021 Jun 25. J Pediatr Endocrinol Metab. 2021. PMID: 33819415 Review.

9

Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate.

Emecen Sanli M, Kilic A, Aktasoglu E, Inci A, Okur I, Ezgu F, Tumer L. Emecen Sanli M, et al. Among authors: inci a. J Pediatr Endocrinol Metab. 2021 Apr 6;34(6):813-816. doi: 10.1515/jpem-2020-0359. Print 2021 Jun 25. J Pediatr Endocrinol Metab. 2021. PMID: 33819418

10

The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.

İnci A, Aktaş E, Cengiz Ergin FB, Okur İ, Biberoğlu G, Ezgü FS, Tümer L. İnci A, et al. JPEN J Parenter Enteral Nutr. 2021 Nov;45(8):1788-1792. doi: 10.1002/jpen.2121. Epub 2021 May 25. JPEN J Parenter Enteral Nutr. 2021. PMID: 33882172

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