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The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
Georgiou, Theodoros; Ho, Gladys; Vogazianos, Marios; Dionysiou, Maria; Nicolaou, Alexia; Chappa, Georgia; Nicolaides, Paola; Stylianidou, Goula; Christodoulou, John; Drousiotou, Anthi.
Affiliation
  • Georgiou T; Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Clin Biochem ; 45(7-8): 588-92, 2012 May.
Article in En | MEDLINE | ID: mdl-22330942
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine Hydroxylase / Phenylketonurias / Neonatal Screening Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Humans / Newborn Country/Region as subject: Europa Language: En Journal: Clin Biochem Year: 2012 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine Hydroxylase / Phenylketonurias / Neonatal Screening Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Humans / Newborn Country/Region as subject: Europa Language: En Journal: Clin Biochem Year: 2012 Document type: Article Affiliation country: Country of publication: