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Article

[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].

Casopis lekaru ceskych - 1 Jan 2010

Vondrácková Alzbeta, Tesarová Markéta, Magner Martin, Docekalová Dagmar, Chrastina Petr, Procházkova Dagmar, Zeman Jirí, Honzík Tomás

Abstract excerpt

BACKGROUND: Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase. HT1 manifests with severe liver and kidney impairment and associates with an increased risk of liver cancer development. The aim of our study is to present a detailed clinical picture and results of biochemical and molecular genetic analyses in 11 Czech...

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Source

Identifiers

PMID: 21117323

Genes

FAH

Variants

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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