日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Diagnostic and therapeutic pitfalls in the management of pediatric patients with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency - a single center experience

3β-羟类固醇脱氢酶2型(3β-HSD2)缺乏症患儿诊疗中的诊断和治疗陷阱——单中心经验

Gawlik, Zuzanna; Preizner-Rzucidło, Ewelina; Kaleta, Konrad; Szwarkowska, Maria; Wróblewska, Martyna; Jurek, Aleksandra; Książek, Teofila; Jażdżewski, Krystian; Siejka, Anna; Starzyk, Jerzy; Januś, Dominika

Severe Hypocalcemia Dependent on Fluconazole in a Newborn With Barakat Syndrome

患有巴拉卡特综合征的新生儿出现对氟康唑依赖的严重低钙血症

Roztoczyńska, Dorota; Wędrychowicz, Anna; Ossowska, Magdalena; Furtak, Aleksandra; Miśkiewicz-Stanek, Paulina; Preizner-Rzucidło, Ewelina; Kwinta-Rybicka, Joanna; Jagła, Mateusz; Starzyk, Jerzy B

Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic variant with coexisting celiac disease: A case study and literature review

纯合CYP11B2致病变异导致的醛固酮合成酶缺乏症合并乳糜泻:病例报告及文献综述

Gawlik, Zuzanna; Kaleta, Konrad; Wróblewska, Martyna; Szwarkowska, Maria; Preizner-Rzucidło, Ewelina; Jażdżewski, Krystian; Wardak, Sebastian; B Starzyk, Jerzy; M Januś, Dominika

Erratum to the article: Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic variant with coexisting celiac disease: A case study and literature review. Pediatr Endocrinol Diabetes Metab 2025; 31 (3): 133-140. DOI: https://doi.org/10.5114/pedm.2025.155104

更正:纯合CYP11B2致病变异导致的醛固酮合成酶缺乏症合并乳糜泻:病例研究及文献综述。《儿科内分泌糖尿病代谢》2025; 31 (3): 133-140。DOI:https://doi.org/10.5114/pedm.2025.155104

Gawlik, Zuzanna; Kaleta, Konrad; Wróblewska, Martyna; Szwarkowska, Maria; Preizner-Rzucidło, Ewelina; Jażdżewski, Krystian; Wardak, Sebastian; B Starzyk, Jerzy; M Januś, Dominika

Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency-Case Report and Literature Overview

原发性肾上腺皮质功能不全、完全性性别逆转及严重CYP11A1(P450scc)缺乏症患者的独特临床表型——病例报告及文献综述

Nowak, Zuzanna; Preizner-Rzucidło, Ewelina; Gawlik, Jakub; Starzyk, Jerzy B; Januś, Dominika