Issue 7/2023
Content (10 Articles)
Inherited Fanconi syndrome
Anna Luiza Braga Albuquerque, Rafael dos Santos Borges, Ana Flávia Conegundes, Erika Emmylaine dos Santos, Frederico Moreira Man Fu, Clara Tavares Araujo, Pedro Alves Soares Vaz de Castro, Ana Cristina Simões e Silva
Clinical spectrum and currently available treatment of type I interferonopathy Aicardi–Goutières syndrome
Giovanni Battista Dell’Isola, Gianluca Dini, Kaleb Logan Culpepper, Katherin Elizabeth Portwood, Pietro Ferrara, Giuseppe Di Cara, Alberto Verrotti, Mauro Lodolo
Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease
Jun Xiao, Lu-Wen Hao, Jing Wang, Xiao-Si Yu, Jing-Yi You, Ze-Jian Li, Han-Dan Mao, Xin-Yao Meng, Jie-Xiong Feng
Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome
Meng-Xuan Wang, Jun Han, Teng Liu, Ren-Xue Wang, Li-Ting Li, Zhong-Die Li, Jun-Cong Yang, Lang-Li Liu, Yi Lu, Xin-Bao Xie, Jing-Yu Gong, Shi-Yu Li, Lei Zhang, Victor Ling, Jian-She Wang
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
Ru-Lai Yang, Gu-Ling Qian, Ding-Wen Wu, Jing-Kun Miao, Xue Yang, Ben-Qing Wu, Ya-Qiong Yan, Hai-Bo Li, Xin-Mei Mao, Jun He, Huan Shen, Hui Zou, Shu-Yuan Xue, Xiao-Ze Li, Ting-Ting Niu, Rui Xiao, Zheng-Yan Zhao
Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients
Wei Wang, Si-Hao Gao, Min Wei, Lin-Qing Zhong, Wei Liu, Shan Jian, Juan Xiao, Cai-Hui Zhang, Jian-Guo Zhang, Xiao-Feng Zeng, Wei-Bo Xia, Zheng-Qing Qiu, Hong-Mei Song
Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China
Yue Zhang, Wei Liu, Zhou Shu, Yan Li, Fei Sun, Zhi-Gang Li, Tong-Xin Han, Hua-Wei Mao, Tian-You Wang
Australian children living with rare diseases: health service use and barriers to accessing care
Suzy Teutsch, Yvonne Zurynski, Guy D. Eslick, Marie Deverell, John Christodoulou, Helen Leonard, Troy Dalkeith, Sandra L. J. Johnson, Elizabeth J. Elliott
Incidence and severity of pediatric appendicitis during the COVID‑19 pandemic
Paula Rosanna Quaglietta, Reto M. Baertschiger
Response to “Incidence and severity of pediatric appendicitis during the COVID‑19 pandemic”
Francesca del Giorgio, Jocelyn Gravel, Nelson Piché, Olivier Drouin