1. Inherited Fanconi syndrome

   • Anna Luiza Braga Albuquerque
   • Rafael dos Santos Borges
   • Ana Cristina Simões e Silva

   Review Article 02 February 2023 Pages: 619 - 634

   

2. Clinical spectrum and currently available treatment of type I interferonopathy Aicardi–Goutières syndrome

   • Giovanni Battista Dell’Isola
   • Gianluca Dini
   • Mauro Lodolo

   Review Article Open access 17 January 2023 Pages: 635 - 643

   

3. Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease

   • Jun Xiao
   • Lu-Wen Hao
   • Jie-Xiong Feng

   Systematic review Open access 01 March 2023 Pages: 644 - 651

   

4. Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome

   • Meng-Xuan Wang
   • Jun Han
   • Jian-She Wang

   Original Article 19 January 2023 Pages: 652 - 662

   

5. A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

   • Ru-Lai Yang
   • Gu-Ling Qian
   • Zheng-Yan Zhao

   Original Article Open access 27 February 2023 Pages: 663 - 673

   

6. Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients

   • Wei Wang
   • Si-Hao Gao
   • Hong-Mei Song

   Original Article Open access 09 January 2023 Pages: 674 - 686

   

7. Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China

   • Yue Zhang
   • Wei Liu
   • Tian-You Wang

   Original Article 08 May 2023 Pages: 687 - 700

   

8. Australian children living with rare diseases: health service use and barriers to accessing care

   • Suzy Teutsch
   • Yvonne Zurynski
   • Elizabeth J. Elliott

   Original Article 18 January 2023 Pages: 701 - 709

   

9. Incidence and severity of pediatric appendicitis during the COVID‑19 pandemic

   • Paula Rosanna Quaglietta
   • Reto M. Baertschiger

   Correspondence 11 April 2023 Pages: 710 - 712

10. Response to “Incidence and severity of pediatric appendicitis during the COVID‑19 pandemic”

    • Francesca del Giorgio
    • Jocelyn Gravel
    • Olivier Drouin

    Correspondence 11 April 2023 Pages: 713 - 713