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.

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Title: 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.
Authors: Cui X; Pediatric Department, First Hospital of Shanxi Medical University, Jiefang Road 85, Yingze District, Taiyuan, Shanxi, People's Republic of China., Zhong Y, Yin C
Source: Medicine [Medicine (Baltimore)] 2026 May 01; Vol. 105 (18), pp. e48340.
Publication Type: Journal Article; Case Reports; Review
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1536-5964
DOI:10.1097/MD.0000000000048340