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Article

Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).

The Journal of clinical endocrinology and metabolism - 1 Oct 2000

Bakker B, Bikker H, Vulsma T, de Randamie J S, Wiedijk B M, De Vijlder J J

Abstract excerpt

Presented is a cohort study to assess the nature and frequency of thyroid peroxidase (TPO) mutations in 45 patients (35 families) with congenital hypothyroidism due to a total iodide organification defect; incidence is 1:66,000 in The Netherlands. The presentation is consistently similar with a severe form of congenital hypothyroidism and also characterized by a complete and immediate release of accumulated...

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Source

Identifiers

PMID: 11061528
DOI: 10.1210/jcem.85.10.6878

Genes

TPO

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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