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2016 1
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2023 9
2024 5

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Page 1
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Gedikbasi A, Toksoy G, Karaca M, Gulec C, Balci MC, Gunes D, Gunes S, Aslanger AD, Unverengil G, Karaman B, Basaran S, Demirkol M, Gokcay GF, Uyguner ZO. Gedikbasi A, et al. Among authors: balci mc. Front Genet. 2023 Jun 12;14:1191159. doi: 10.3389/fgene.2023.1191159. eCollection 2023. Front Genet. 2023. PMID: 37377599 Free PMC article.
A different perspective into clinical symptoms in CPT I deficiency.
Balci MC, Karaca M, Selamioglu A, Korbeyli HK, Durmus A, Ak B, Kozanoglu T, Gokcay GF. Balci MC, et al. Mol Genet Metab Rep. 2023 Nov 30;38:101032. doi: 10.1016/j.ymgmr.2023.101032. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38090675 Free PMC article.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S, Opladen T. Yıldız Y, et al. Among authors: balci mc. J Inherit Metab Dis. 2024 May;47(3):431-446. doi: 10.1002/jimd.12658. Epub 2023 Jul 24. J Inherit Metab Dis. 2024. PMID: 37452721
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL. Katler QS, et al. Among authors: balci mc. J Inherit Metab Dis. 2022 Nov;45(6):1106-1117. doi: 10.1002/jimd.12556. Epub 2022 Sep 26. J Inherit Metab Dis. 2022. PMID: 36093991 Free PMC article.
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balcı MC, Berg V, Çoker M, Das AM, Demirkol M, Derks TGJ, Gökçay G, Uçar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sass JO. Grünert SC, et al. Among authors: balci mc. Mol Genet Metab. 2017 Sep;122(1-2):67-75. doi: 10.1016/j.ymgme.2017.06.012. Epub 2017 Jun 27. Mol Genet Metab. 2017. PMID: 28689740
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