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Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c.
Brunkhorst M, Brunkhorst L, Martens H, Papizh S, Besouw M, Grasemann C, Turan S, Sikora P, Chromek M, Cornelissen E, Fila M, Lilien M, Allgrove J, Neuhaus TJ, Eltan M, Espinosa L, Schnabel D, Gokce I, González-Rodríguez JD, Khandelwal P, Keijzer-Veen MG, Lechner F, Szczepańska M, Zaniew M, Bacchetta J, Emma F, Haffner D. Brunkhorst M, et al. Among authors: eltan m. Kidney Int. 2024 Oct 24:S0085-2538(24)00727-0. doi: 10.1016/j.kint.2024.08.035. Online ahead of print. Kidney Int. 2024. PMID: 39461557 Free article.
Expanding the Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings.
Alavanda C, Demir Ş, Güven S, Eltan M, Bilgiç Eltan S, Sefer AP, Pul S, Güran T, Alpay H, Arman A, Ata P, Turan S. Alavanda C, et al. Among authors: eltan m. J Clin Res Pediatr Endocrinol. 2024 Aug 8. doi: 10.4274/jcrpe.galenos.2024.2024-1-17. Online ahead of print. J Clin Res Pediatr Endocrinol. 2024. PMID: 39113392 Free article.
Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature.
Kirkgoz T, Abali S, Seker A, Gurpinar Tosun B, Eltan M, Helvacioglu D, Haliloglu B, Kaygusuz SB, Yavas Abali Z, Seven Menevse T, Bozkurt S, Ones T, Guran T, Dagcinar A, Bereket A, Turan S. Kirkgoz T, et al. Among authors: eltan m. Horm Res Paediatr. 2023;96(5):527-537. doi: 10.1159/000529070. Epub 2023 Jan 11. Horm Res Paediatr. 2023. PMID: 36630941 Review.
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
Cicek D, Warr N, Yesil G, Kocak Eker H, Bas F, Poyrazoglu S, Darendeliler F, Direk G, Hatipoglu N, Eltan M, Yavas Abali Z, Gurpinar Tosun B, Kaygusuz SB, Seven Menevse T, Helvacioglu D, Turan S, Bereket A, Reeves R, Simon M, Mackenzie M, Teboul L, Greenfield A, Guran T. Cicek D, et al. Among authors: eltan m. Eur J Endocrinol. 2021 Dec 1;186(1):65-72. doi: 10.1530/EJE-21-0910. Eur J Endocrinol. 2021. PMID: 34714774 Free PMC article.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. Schlingmann KP, et al. Among authors: eltan m. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333. Epub 2021 Oct 4. J Am Soc Nephrol. 2021. PMID: 34607910 Free PMC article.
Efficacy of the Novel Degludec/Aspart Insulin Co-formulation in Children and Adolescents with Type 1 Diabetes: A Real-life Experience with One Year of IDegAsp Therapy in Poorly Controlled and Non-compliant Patients.
Kırkgöz T, Eltan M, Kaygusuz SB, Yavaş Abalı Z, Helvacıoğlu D, Seven Menevşe T, Gürpınar Tosun B, Güran T, Bereket A, Turan S. Kırkgöz T, et al. Among authors: eltan m. J Clin Res Pediatr Endocrinol. 2022 Mar 3;14(1):10-16. doi: 10.4274/jcrpe.galenos.2021.2021.0113. Epub 2021 Aug 6. J Clin Res Pediatr Endocrinol. 2022. PMID: 34355879 Free PMC article.
16 results