The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening-Reference-Cited by-同舟云学术

The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening

Published:2012-05 Issue:7-8 Volume:45 Page:588-592
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Georgiou Theodoros,Ho Gladys,Vogazianos Marios,Dionysiou Maria,Nicolaou Alexia,Chappa Georgia,Nicolaides Paola,Stylianidou Goula,Christodoulou John,Drousiotou Anthi

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference26 articles.

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3. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants;Guthrie;Pediatrics,1963

4. Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria;Blau;Mol Genet Metab,2009

5. Phenylketonuria mutations in Germany;Zschocke;Hum Genet,1999

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