An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

Tetrahydrobiopterin: biochemistry and pathophysiology

(2013) Ernst R. Werner et al.   BIOCHEMICAL JOURNAL

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

(2011) Jennifer Friedman et al.   ANNALS OF NEUROLOGY

Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan

(2011) Dau-Ming Niu   BRAIN & DEVELOPMENT

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

(2011) Thomas Opladen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

(2010) Thomas Opladen et al.   MOVEMENT DISORDERS

Disorders of biopterin metabolism

(2009) Nicola Longo   JOURNAL OF INHERITED METABOLIC DISEASE

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

(2009) F. Porta et al.   NEUROLOGY

Quantitative Regulation of Intracellular Endothelial Nitric-oxide Synthase (eNOS) Coupling by Both Tetrahydrobiopterin-eNOS Stoichiometry and Biopterin Redox Status

(2008) Mark J. Crabtree et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients

(2008) D. Concolino et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

(2007) Leandra Jäggi et al.   MOLECULAR GENETICS AND METABOLISM