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Article

[Genetic diagnosis of fructose-1, 6-bisphosphatase deficiency: a case report].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Oct 2014

Xu Ke, Liu Xue-qin, Zhang Chun-yu, Wang Ying, Li Xing, Wu Ye, Yang Yan-ling, Xiao Hhu-jie

Abstract excerpt

OBJECTIVE: To report the first case of fructose-1,6-bisphosphatase (FBPase) deficiency diagnosed by genetic sequencing in China, and to improve the cognition of this rare disease. METHODS: The clinical and laboratory characteristics of FBPase deficiency were reviewed, and the findings of direct sequencing of genomic DNA described, and published literature on FBPase deficiency reviewed. RESULTS: A 23-month-old boy...

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Identifiers

PMID: 25331386

Genes

FBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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