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Article

Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.

Molecular genetics and metabolism - 1 Apr 2002

Srsen Stefan, Müller Clemens R, Fregin Andreas, Srsnova Klara

Abstract excerpt

Research on alkaptonuria (AKU; OMIM # 230500) in Slovakia started in 1968 by the Research Laboratory (later on the Institute) for Clinical Genetics at Martin. Its first stage was focused on clinical, biochemical, genetic and epidemiologic questions and on the reasons for the high prevalence of AKU in Slovakia. Based on a screening programme of now over 611,000 inhabitants (509,000 newborns) the world-wide highest...

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Source

Identifiers

PMID: 12051967
DOI: 10.1016/S1096-7192(02)00002-1

Genes

HGD

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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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