A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review.
- 2026-05-01
- Review
- Medicine 105(18)
- Xuxia Cui
- Yajing Zhong
- Chongjuan Yin
- PubMed: 42065149
- DOI: 10.1097/md.0000000000048340
- Low evidence
- Infants
At discharge, the patient exhibited stable vital signs, improved developmental milestones, reduced pulmonary artery systolic pressure, normal renal function, and no evidence of hydrocephalus progression.
- Effect
- Beneficial
- Effect size
- Moderate