Martínez-Pardo M

Language: Spanish
References: 2
Page: 290-292
PDF size: 53.44 Kb.

ABSTRACT

Monitoring phenylketonuria adult patients is an important subject which has created considerable interest in specialized metabolic clinics. The aim of this paper is to present an overview of the experience with these patients in the Unit of Metabolic Diseases at the Hospital Ramon y Cajal; the use of sapropterin in adults is included.

REFERENCES

1. Bélanger-Quintana A, Martínez-Pardo M. Physical development in patients with phenylketonuria on dietary treatment: A retrospective study. Mol Genet Metab 2011;104(4):480-4

2. Bélanger-Quintana A, García MJ, Castro M, Desviat LR, Pérez B, Mejía B, Ugarte M, Martínez-Pardo M. Spanish BH4-responsive phenylalanine hydroxylase- deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Mol Genet Metab 2005; Suppl 1:S61-6.