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

An unusual case of remission of clinically overt autoimmune Addison's disease in a Pakistani girl

巴基斯坦一名女孩临床表现明显的自身免疫性艾迪生病罕见缓解病例

Arshad, Kashan; Hussain, Syed Saddam; Aftab, Sommayya

Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization

由新型CYP19A1基因突变引起的芳香化酶缺乏症:一种罕见的母体和胎儿男性化病因。

Naseem, Aamir; Zahid, Muhammad; Arshad, Kashan; Hussain, Syed Saddam; Aftab, Sommayya; Saeed, Anjum; Cheema, Huma Arshad

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

Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports

CYP11B2 基因突变引起的皮质酮甲基氧化酶 1 型 (CMO1) 缺乏症:两例病例报告

Ur Rehman, Saad; Aftab, Sommayya; Naseem, Aamir; Saeed, Anjum; Cheema, Huma Arshad

Precocious puberty: The clinical profile and the etiological classification of children presented at a tertiary care children's hospital

性早熟:三级儿童医院收治患儿的临床特征和病因分类

Aftab, Sommayya; Manzoor, Jaida; Mahmood, Qaiser; Shaheen, Tahir

Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1

酪氨酸血症1型中对二氮嗪有反应的高胰岛素血症性低血糖

Sotiridou, Ellada; Hoermann, Henrike; Aftab, Sommayya; Dastamani, Antonia; Thimm, Eva; Doodson, Louise; Batzios, Spyros; Kummer, Sebastian; Shah, Pratik

Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan

生殖器畸形:巴基斯坦拉合尔儿童医院及儿童健康研究所七年经验概述

Manzoor, Jaida; Aftab, Sommayya; Yaqoob, Muhammad