2023年7期
World Journal of Pediatrics
Review articles
Original articles
- Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome
- A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
- Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients
- Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China
- Australian children living with rare diseases: health service use and barriers to accessing care