Review articles

1. Inherited Fanconi syndrome
2. Clinical spectrum and currently available treatment of type I interferonopathy Aicardi–Goutières syndrome
3. Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease

Original articles

1. Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome
2. A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
3. Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients
4. Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China
5. Australian children living with rare diseases: health service use and barriers to accessing care

Correspondences

1. Incidence and severity of pediatric appendicitis during the COVID-19 pandemic
2. Response to “Incidence and severity of pediatric appendicitis during the COVID-19 pandemic”

Instructions for Authors

1. Instructions for Authors

Information for Readers

1. Information for Readers

Editors

1. Editors