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Article

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

Journal of inherited metabolic disease - 1 Jun 1999

Wevers R A, de Rijk-van Andel J F, Bräutigam C, Geurtz B, van den Heuvel L P, Steenbergen-Spanjers G C, Smeitink J A, Hoffmann G F, Gabreëls F J

Abstract excerpt

An overview is given of the current knowledge on the human tyrosine hydroxylase gene and on the biochemical aspects of diagnosing defects in this gene. Diagnostic biochemical findings are described in four cases of genetically confirmed tyrosine hydroxylase deficiency. Decreased CSF levels of hom...

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Identifiers

PMID: 10407773
DOI: 10.1023/a:1005539803576

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10407773-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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