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Article

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.

Molecular genetics and metabolism - 1 Feb 2004

Cerone R, Schiaffino M C, Fantasia A R, Perfumo M, Birk Moller L, Blau N

Abstract excerpt

We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH4 loading test. I...

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Identifiers

PMID: 14741196
DOI: 10.1016/j.ymgme.2003.11.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14741196-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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