Author

Jian Guo

2 papers indexed here

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Open access Oct 2026

The diagnostic journey of fibrodysplasia ossificans progressiva: evidence from a national cohort of 114 patients

A cross-sectional analysis of 114 patients with molecularly confirmed FOP enrolled in the National Rare Diseases Registry System of China provides a rationale for prospective evaluation of an early-recognition pathway emphasizing examination of the great toes, avoidance of invasive procedures when FOP is suspected, ACV...

L. Cui, Quan-Shi Ouyang, Jian Guo et al. · Frontiers in Endocrinology · 0 citations

Review Open access Aug 2026

Health-related quality of life and its influencing factors in Chinese patients with phenylketonuria

Background Phenylketonuria, a rare genetic metabolic disorder, can cause various complications and severe impairments to patients' health-related quality of life (HRQoL). However, most evidence comes from Western populations, which may not apply to China due to differing healthcare systems and cultures. Thus, this stud...

Hao Ding, Jiayin Zheng, Tie-Min Zhai et al. · Frontiers in Pediatrics · 0 citations