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Article

Transaldolase deficiency in two new patients with a relative mild phenotype.

Molecular genetics and metabolism - 1 May 2009

Tylki-Szymańska Anna, Stradomska Teresa J, Wamelink Mirjam M C, Salomons Gajja S, Taybert Joanna, Pawłowska Joanna, Jakobs Cornelis

Abstract excerpt

Transaldolase (TALDO) deficiency is a recently described inborn error of metabolism of the pentose phosphate pathway that so far has been diagnosed in only eight patients. In this article, we report the clinical course and biochemical findings of two newly identified patients with TALDO deficienc...

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Identifiers

PMID: 19299175
DOI: 10.1016/j.ymgme.2009.01.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19299175-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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