Brain and Development Case Reports

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Brain and Development Case Reports - 最新文献

Non-invasive functional testing facilitates diagnostic confirmation in glucose transport 1 deficiency syndrome

Pub Date : 2025-07-18 DOI: 10.1016/j.bdcasr.2025.100098 Wui-Kwan Wong , Bindu Parayil Sankaran , Josep Bonet , Vincent Petit , Teresa Marzulli , Julie Curtin , Emma Hackett , Shanti Balasubramaniam

Sialidosis type1 with cardiac malformation: A case report

Pub Date : 2025-07-17 DOI: 10.1016/j.bdcasr.2025.100097 Motoko Otsuka , Shigeru Nagaki , Kaoru Eto , Yasushi Ito , Hitoshi Sakuraba , Kohji Itoh , Hideshi Yamamura , Kei Inai , Makiko Osawa , Satoru Nagata

Case report: ZNF526-related Dentici-Novelli neurodevelopmental syndrome in two sibling

Pub Date : 2025-07-14 DOI: 10.1016/j.bdcasr.2025.100096 Yanhong Zhu , Xu Cao , Hui Yan , Yanping Fan , Weidong Zhao , Yujun Zhan , Hongli Zeng , Chaoyang Zhou , Zhenjie Chen , Li Yu , Jianguo Cao

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