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Article

Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis.

Journal of inherited metabolic disease - 1 Dec 2010

Åsberg Cristine, Hjalmarson Ola, Alm Jan, Martinsson Tommy, Waldenström Johan, Hellerud Christina

Abstract excerpt

Fructose 1,6-bisphosphatase (FBPase) deficiency is an inborn error of metabolism in the gluconeogenetic pathway. During periods of low food intake or infections, a defect in FBPase can result in hypoglycemia, ketonuria and metabolic acidosis. We established a diagnostic system for FBPase deficien...

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Source

Identifiers

PMID: 20151204
DOI: 10.1007/s10545-009-9034-5

Genes

FBP1
FBP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20151204-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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