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

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

CADDS中的间质性肺病和胰腺外分泌功能不全:表型扩展和文献综述

Heath, Oliver; Pandithan, Dinusha; Pitt, James; Savva, Elena; Raiti, Laura; Bracken, Jenny; Vandeleur, Moya; Delatycki, Martin B; Yaplito-Lee, Joy; Hardikar, Winita; Halligan, Rebecca

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

3-甲基戊二酰辅酶A水合酶缺乏症:当诊断偏倚干扰生化诊断时

Hertzog, Ashley; Selvanathan, Arthavan; Pandithan, Dinusha; Kim, Won-Tae; Kava, Maina P; Boneh, Avihu; Coman, David; Tolun, Adviye Ayper; Bhattacharya, Kaustuv

Ethylmalonic encephalopathy masquerading as meningococcemia

乙基丙二酸脑病伪装成脑膜炎球菌血症

Horton, Ari; Hong, Kai Mun; Pandithan, Dinusha; Allen, Meredith; Killick, Caroline; Goergen, Stacy; Springer, Amanda; Phelan, Dean; Marty, Melanie; Halligan, Rebecca; Lee, Joy; Pitt, James; Chong, Belinda; Christodoulou, John; Lunke, Sebastian; Stark, Zornitza; Fahey, Michael

Biallelic IARS2 mutations presenting as sideroblastic anemia

双等位基因 IARS2 突变表现为铁粒幼细胞性贫血

Barcia, Giulia; Pandithan, Dinusha; Ruzzenente, Benedetta; Assouline, Zahra; Pennisi, Alessandra; Ormieres, Clothilde; Besmond, Claude; Roux, Charles-Joris; Boddaert, Nathalie; Desguerre, Isabelle; Thorburn, David R; Bratkovic, Drago; Munnich, Arnold; Bonnefont, Jean-Paul; Rötig, Agnès; Steffann, Julie