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

[Non-classic lipoid adrenal hyperplasia: clinical cases report]

【非典型脂质性肾上腺增生:临床病例报告】

Sichinava, I G; Demina, E S; Sharibzhanova, E M; Sozaeva, L S; Petryaykina, E E; Tiulpakov, A N

[DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report]

[DICER1综合征伴出生第一年出现生殖器胚胎性横纹肌肉瘤:病例报告]

Sichinava, I G; Demina, E S; Sharibzhanova, E M; Ismailova, F K; Gvozdkova, A G; Korostin, D O; Petryaykina, E E; Tiulpakov, A N

[Culler-Jones syndrome polymorphism]

[库勒-琼斯综合征多态性]

Raykina, E N; Kolodkina, A A; Bolmasova, A V; Bondarenko, S P; Pankratova, M S; Tiulpakov, A N; Zabudskaya, K G; Bezlepkina, O B

[Two cases of congenital isolated adrenocorticotropic hormone deficiency due to pathogenic variants in TBX19]

[两例由TBX19致病变异引起的先天性孤立性促肾上腺皮质激素缺乏症]

Skorodok, Yu L; Kozhevnikova, A V; Plotnikova, E V; Ioffe, I Y; Tiulpakov, A N

[Salivary steroid profile investigation by high performance liquid chromatography-tandem mass spectrometry in children with congenital adrenal hyperplasia]

[采用高效液相色谱-串联质谱法对先天性肾上腺皮质增生症患儿唾液类固醇谱进行研究]

Tiulpakov, M A; Kalinchenko, N Y; Bychenkov, D V; Ioutsi, V A; Antsupova, M A; Elfimova, A R; Nagaeva, E V

[A promising approach for therapy control in congenital adrenal hyperplasia. Problems of Endocrinology]

[一种用于治疗先天性肾上腺皮质增生症的有效控制方法。内分泌学问题]

Tiulpakov, M A; Nagaeva, E V; Kalinchenko, N Y; Bezlepkina, O B

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1

由GLUD1基因激活突变引起的先天性高胰岛素血症患儿的神经发育障碍谱

Aftab, Sommayya; Gubaeva, Diliara; Houghton, Jayne A L; Dastamani, Antonia; Sotiridou, Ellada; Gilbert, Clare; Flanagan, Sarah E; Tiulpakov, Anatoly; Melikyan, Maria; Shah, Pratik

Insulinoma in childhood: a retrospective review of 22 patients from one referral centre

儿童胰岛素瘤:对同一转诊中心 22 名患者的回顾性分析

Maria Melikyan, Diliara Gubaeva, Anna Shadrina, Anna Bolmasova, Maria Kareva, Anatoly Tiulpakov, Artem Efremenkov, Yuri Sokolov, Klaus Brusgaard, Henrik T Christesen, Kirstine Andersen, Alexey Stepanov, Julia Averyanova, Sergey Makarov, Larisa Gurevich3

[Intestinal ganglioneuromatosis as an early extra-endocrine manifestation of type 2B multiple endocrine neoplasia]

[肠神经节瘤病作为2B型多发性内分泌肿瘤的早期内分泌外表现]

Averianova, J V; Kalinchenko, N Y; Brovin, D N; Petryaykina, E E; Tiulpakov, A N

[Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2]

[由AQP2基因中p.R113C纯合突变引起的精氨酸加压素抵抗的临床和实验室特征]

Makretskaya, N A; Nanzanova, U S; Hamaganova, I R; Eremina, E R; Tiulpakov, A N