Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

91 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
PMM2-CDG and sensorineural hearing loss.
Kasapkara ÇS, Barış Z, Kılıç M, Yüksel D, Keldermans L, Matthijs G, Jaeken J. Kasapkara ÇS, et al. J Inherit Metab Dis. 2017 Sep;40(5):629-630. doi: 10.1007/s10545-017-0073-z. Epub 2017 Jul 31. J Inherit Metab Dis. 2017. PMID: 28762107 No abstract available.
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. Among authors: kasapkara cs. 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. 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. ...
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. Among authors: kasapkara cs. 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.
91 results