Inherited Fanconi syndrome Anna Luiza Braga AlbuquerqueRafael dos Santos BorgesAna Cristina Simões e Silva Review Article 02 February 2023 Pages: 619 - 634
Clinical spectrum and currently available treatment of type I interferonopathy Aicardi–Goutières syndrome Giovanni Battista Dell’IsolaGianluca DiniMauro Lodolo Review Article Open access 17 January 2023 Pages: 635 - 643
Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease Jun XiaoLu-Wen HaoJie-Xiong Feng Systematic review Open access 01 March 2023 Pages: 644 - 651
Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome Meng-Xuan WangJun HanJian-She Wang Original Article 19 January 2023 Pages: 652 - 662
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China Ru-Lai YangGu-Ling QianZheng-Yan Zhao Original Article Open access 27 February 2023 Pages: 663 - 673
Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients Wei WangSi-Hao GaoHong-Mei Song Original Article Open access 09 January 2023 Pages: 674 - 686
Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China Yue ZhangWei LiuTian-You Wang Original Article 08 May 2023 Pages: 687 - 700
Australian children living with rare diseases: health service use and barriers to accessing care Suzy TeutschYvonne ZurynskiElizabeth J. Elliott Original Article 18 January 2023 Pages: 701 - 709
Incidence and severity of pediatric appendicitis during the COVID‑19 pandemic Paula Rosanna QuagliettaReto M. Baertschiger Correspondence 11 April 2023 Pages: 710 - 712
Response to “Incidence and severity of pediatric appendicitis during the COVID‑19 pandemic” Francesca del GiorgioJocelyn GravelOlivier Drouin Correspondence 11 April 2023 Pages: 713 - 713