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MAN1B1-CDG: novel patients and novel variant.
Kasapkara CS, Olgac A, Kilic M, Keldermans L, Matthijs G, Jaeken J. Kasapkara CS, et al. Among authors: olgac a. J Pediatr Endocrinol Metab. 2021 Jun 24;34(9):1207-1209. doi: 10.1515/jpem-2021-0038. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34162022
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.
Olgac A, Öztoprak Ü, Kasapkara ÇS, Kılıç M, Yüksel D, Derinkuyu EB, Taşçı Yıldız Y, Ceylaner S, Ezgu FS. Olgac A, et al. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170. doi: 10.1515/jpem-2019-0245. J Pediatr Endocrinol Metab. 2020. PMID: 31821167
An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.
Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. Kasapkara ÇS, et al. Among authors: olgac a. Turk J Pediatr. 2019;61(2):282-285. doi: 10.24953/turkjped.2019.02.021. Turk J Pediatr. 2019. PMID: 31951343 Free article.
Kasapkara CS, Yilmaz-Keskin E, Ozbay-Hosnut F, Akcaboy M, Polat E, Olgac A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. ...Early diagnosis and treatment are crucial for …
Kasapkara CS, Yilmaz-Keskin E, Ozbay-Hosnut F, Akcaboy M, Polat E, Olgac A, Zorlu P. An infant with an extremely rare cobalami …
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.
Olgac A, Kasapkara ÇS, Kilic M, Emine Derinkuyu B, Azapagasi E, Kesici S, Biberoğlu G, Ozyazici A, Karaca M, Haberle J. Olgac A, et al. Arch Argent Pediatr. 2020 Dec;118(6):e545-e548. doi: 10.5546/aap.2020.eng.e545. Arch Argent Pediatr. 2020. PMID: 33231058 Free article. English, Spanish.
Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience.
Olgac A, Kasapkara ÇS, Derinkuyu B, Yüksel D, Çetinkaya S, Aksoy A, Ceylaner S, Güleray N, Yeşilipek A, Aydın Hİ, Orgun LT, Kılıç M. Olgac A, et al. J Pediatr Endocrinol Metab. 2021 Jun 24;34(9):1169-1179. doi: 10.1515/jpem-2021-0032. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34162029 Clinical Trial.
50 results