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Article

Secondary disorders of glycosylation in inborn errors of fructose metabolism.

Journal of inherited metabolic disease - 1 Dec 2009

Quintana E, Sturiale L, Montero R, Andrade F, Fernandez C, Couce M L, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch R, Briones P

Abstract excerpt

Adamowicz and colleagues raised the alert in 2007 about patients with atypical hereditary fructose intolerance (HFI) primarily misdiagnosed as CDG Ix. We describe a girl with neonatal hypertonia, facial trismus, absent swallowing and coughing reflexes, gastro-oesophageal reflux and sporadically e...

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Source

Identifiers

PMID: 19768653
DOI: 10.1007/s10545-009-1219-4

Genes

FBP1
ALDOB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19768653-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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