Yazici H - Search Results

1

Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

Bozaci AE, Er E, Yazici H, Canda E, Kalkan Uçar S, Güvenc Saka M, Eraslan C, Onay H, Habif S, Thöny B, Coker M. Bozaci AE, et al. Among authors: yazici h. JIMD Rep. 2021 Feb 1;59(1):42-51. doi: 10.1002/jmd2.12199. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977029 Free PMC article.

2

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.

Canda E, Yazici H, Er E, Kose M, Basol G, Onay H, Ucar SK, Habif S, Ozkinay F, Coker M. Canda E, et al. Among authors: yazici h. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):917-926. doi: 10.1515/jpem-2018-0148. J Pediatr Endocrinol Metab. 2018. PMID: 29995633 Free article. Clinical Trial.

3

Two siblings with galactose mutarotase deficiency: Clinical differences.

Yazici H, Canda E, Altınok YA, Ucar SK, Coker M. Yazici H, et al. JIMD Rep. 2021 Nov 29;63(1):25-28. doi: 10.1002/jmd2.12263. eCollection 2022 Jan. JIMD Rep. 2021. PMID: 35028268 Free PMC article.

4

Severe perinatal hypophosphatasia case with a novel mutation.

Yazici H, Canda E, Kalkan Ucar S, Coker M. Yazici H, et al. Arch Argent Pediatr. 2022 Feb;120(1):e21-e24. doi: 10.5546/aap.2022.eng.e21. Epub 2022 Jan 1. Arch Argent Pediatr. 2022. PMID: 35068125 Free article. English, Spanish.

5

Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux.

Karataş MÇ, Yazıcı H, Bozacı AE, Canda E, Levent E, Uçar SK, Çoker M. Karataş MÇ, et al. Among authors: yazici h. Arch Argent Pediatr. 2022 Feb;120(1):e25-e28. doi: 10.5546/aap.2022.eng.e25. Epub 2022 Jan 1. Arch Argent Pediatr. 2022. PMID: 35068126 Free article. English, Spanish.

6

Long-term follow-up of alkaptonuria patients: single center experience.

Bozaci AE, Yazici H, Canda E, Uçar SK, Guvenc MS, Berdeli A, Habif S, Coker M. Bozaci AE, et al. Among authors: yazici h. J Pediatr Endocrinol Metab. 2022 Jun 6;35(7):913-923. doi: 10.1515/jpem-2022-0004. Print 2022 Jul 26. J Pediatr Endocrinol Metab. 2022. PMID: 35671204

7

Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.

Kalkan Uçar S, Yazıcı H, Canda E, Er E, Bulut FD, Eraslan C, Onay H, Bax BE, Çoker M. Kalkan Uçar S, et al. Among authors: yazici h. JIMD Rep. 2022 Jul 10;63(5):484-493. doi: 10.1002/jmd2.12315. eCollection 2022 Sep. JIMD Rep. 2022. PMID: 36101829 Free PMC article.

8

Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency.

Yazıcı H, Canda E, Onay H, Uçar SK, Habif S, Çoker M. Yazıcı H, et al. Turk J Pediatr. 2022;64(5):946-950. doi: 10.24953/turkjped.2021.245. Turk J Pediatr. 2022. PMID: 36305448 Free article.

9

Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl.

Yoldas Celik M, Canda E, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Anik A, Kalkan Ucar S, Coker M. Yoldas Celik M, et al. Among authors: yazici h. J Clin Res Pediatr Endocrinol. 2023 Jan 4. doi: 10.4274/jcrpe.galenos.2022.2022-2022-9-12. Online ahead of print. J Clin Res Pediatr Endocrinol. 2023. PMID: 36598177 Free article.

10

Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.

Yoldas Celik M, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Zeybek S, Canda E, Kalkan Ucar S, Coker M. Yoldas Celik M, et al. Among authors: yazici h. J Pediatr Endocrinol Metab. 2023 Apr 13;36(6):530-538. doi: 10.1515/jpem-2022-0641. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37042760

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