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The Turkish Journal of Pediatrics|April 19, 2000
Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemiaT Coşkun, T Karagöz, S Kalkanoğlu, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Possible high frequency of tetrahydrobiopterin deficiency in south BrazilL B Jardim, R Giugliani, J C Coelho, et al.Neurology|October 27, 2004
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiencyA Schiller, R A Wevers, G C H Steenbergen, et al.Neuropediatrics|May 8, 2008
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficitsV T Ramaekers, N Blau, J M Sequeira, et al.The Journal of Pediatrics|March 1, 1995
A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening programN Blau, H Ichinose, T Nagatsu, et al.Neurology|September 10, 2003
Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotypeN Blau, L Bonafé, I Krägeloh-Mann, et al.Molecular Genetics and Metabolism|January 27, 2004
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuriaR Cerone, M C Schiaffino, A R Fantasia, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|May 1, 1994
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissueN Blau, L Kierat, A Matasovic, et al.Molecular Genetics and Metabolism|February 4, 2010
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypothesesM J de Groot, M Hoeksma, N Blau, et al.European Journal of Pediatrics|June 5, 2001
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiencyA Dudesek, W Röschinger, A C Muntau, et al.Pageof 21