Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate.
Case Rep Pediatr. 2017;2017:1045031. doi: 10.1155/2017/1045031. Epub 2017 May 15.
Case Rep Pediatr. 2017.
PMID: 28589054
Free PMC article.
One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency.
Uçar SK, Ozbaran B, Altinok YA, Kose M, Canda E, Kagnici M, Coker M.
Uçar SK, et al. Among authors: kagnici m.
JIMD Rep. 2015;19:31-3. doi: 10.1007/8904_2014_361. Epub 2015 Feb 10.
JIMD Rep. 2015.
PMID: 25665834
Free PMC article.
Item in Clipboard
Coexistence of Gaucher Disease and severe congenital neutropenia.
Kose MD, Canda E, Kağnıcı M, Uçar SK, Onay H, Yıldırım Sozmen E, Karapınar D, Özkınay F, Çoker M.
Kose MD, et al. Among authors: kagnici m.
Blood Cells Mol Dis. 2019 May;76:1-6. doi: 10.1016/j.bcmd.2018.07.001. Epub 2018 Aug 10.
Blood Cells Mol Dis. 2019.
PMID: 30473482
Item in Clipboard
Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy.
Canda E, Kose M, Kagnici M, Ucar SK, Sozmen EY, Coker M.
Canda E, et al. Among authors: kagnici m.
Blood Cells Mol Dis. 2018 Feb;68:180-184. doi: 10.1016/j.bcmd.2017.01.007. Epub 2017 Jan 16.
Blood Cells Mol Dis. 2018.
PMID: 28111116
No abstract available.
Item in Clipboard
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.
Kose M, Canda E, Kagnici M, Aykut A, Adebali O, Durmaz A, Bircan A, Diniz G, Eraslan C, Kose E, Ünalp A, Yılmaz Ü, Ozyilmaz B, Özdemir TR, Atik T, Uçar SK, McFarland R, Taylor RW, Brown GK, Çoker M, Özkınay F.
Kose M, et al. Among authors: kagnici m.
Mol Genet Metab Rep. 2020 Oct 23;25:100657. doi: 10.1016/j.ymgmr.2020.100657. eCollection 2020 Dec.
Mol Genet Metab Rep. 2020.
PMID: 33134083
Free PMC article.
Item in Clipboard
Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.
Köse MD, Kagnici M, Özdemir TR, Erdur CB, Erdemir G, Karakoyun M, Guzin Y, Ceylaner S, Genel F.
Köse MD, et al. Among authors: kagnici m.
J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):157-163. doi: 10.1515/jpem-2019-0377.
J Pediatr Endocrinol Metab. 2020.
PMID: 31809266
Item in Clipboard
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.
Çolak R, Alkan Özdemir S, Yangın Ergon E, Kağnıcı M, Çalkavur Ş.
Çolak R, et al. Among authors: kagnici m.
Balkan Med J. 2017 Dec 1;34(6):580-583. doi: 10.4274/balkanmedj.2016.1376. Epub 2017 Apr 13.
Balkan Med J. 2017.
PMID: 28443597
Free PMC article.
Item in Clipboard
Two cases of MEGDHEL syndrome diagnosed with hyperammonemia.
Molla GK, Kağnıcı M, Günlemez A, Yeni Y, Ünal Uzun Ö.
Molla GK, et al. Among authors: kagnici m.
J Pediatr Endocrinol Metab. 2022 Dec 15;36(2):203-206. doi: 10.1515/jpem-2022-0418. Print 2023 Feb 23.
J Pediatr Endocrinol Metab. 2022.
PMID: 36517456
Item in Clipboard
Cite
Cite