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List of works by Nenad Blau

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Tetrahydrobiopterin biosynthesis, regeneration and functions

scientific article
Phenylketonuria

scientific article published on 01 October 2010
Tetrahydrobiopterin: biochemistry and pathophysiology

scientific article published on September 15, 2011
Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article
Nitric oxide synthase is not a constituent of the antimicrobial armature of human mononuclear phagocytes

scientific article published on 01 June 1993
Key European guidelines for the diagnosis and management of patients with phenylketonuria.

scientific article published on 9 January 2017
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

scientific article
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

scientific article
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

scientific article published in January 2008
Chronic treatment with tetrahydrobiopterin reverses endothelial dysfunction and oxidative stress in hypercholesterolaemia

scientific article published on 4 October 2007
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.

scientific article published in December 2002
Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

scientific article published on 26 August 2011
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

scientific article published on 01 September 2006
The neurochemistry of phenylketonuria.

scientific article
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

scientific article published on 26 May 2010
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria

scientific article published on 26 July 2005
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits

scientific article published in December 2007
Phenylketonuria Scientific Review Conference: state of the science and future research needs

scientific article published on 6 March 2014
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

scientific article published on February 1984
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.

scientific article published on January 2010
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.

scientific article published on 08 February 2009
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

scientific article
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria

scientific article published on 01 June 2007
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

scientific article
Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

scientific article published on September 2003
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

scientific article published on 29 April 2010
International database of tetrahydrobiopterin deficiencies

scientific article
Management of phenylketonuria in Europe: survey results from 19 countries

scientific article published on 13 September 2009
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study

scientific article
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid

scientific article published in March 2005
Successful treatment of phenylketonuria with tetrahydrobiopterin

scientific article
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

scientific article published in April 2009
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

scientific article published on April 2012
Effect of BH(4) supplementation on phenylalanine tolerance

scientific article
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

scientific article
Genetics of Phenylketonuria: Then and Now.

scientific article published on 26 February 2016
Challenges and pitfalls in the management of phenylketonuria

scientific article published on 12 July 2010
Cerebral folate deficiency

scientific article published on 01 December 2004
Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin

scientific article (publication date: 25 July 2003)
Gene expression profiling of inflamed human endothelial cells and influence of activated protein C.

scientific article published on 25 October 2004
Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

scientific article published on 20 May 2013
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.

scientific article published on May 2013
Regulation of the L-arginine-dependent and tetrahydrobiopterin-dependent biosynthesis of nitric oxide in murine macrophages

scientific article published on 01 April 1993
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria

scientific article
Molecular genetics and diagnosis of phenylketonuria: state of the art.

scientific article published on 31 May 2014
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

scientific article published on August 1998
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population

scientific article published on 18 November 2010
Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution

scientific article
Reduced folate transport to the CNS in female Rett patients

scientific article published in August 2003
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

scientific article published on 3 December 2007

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