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Lista de obras de Nenad Blau

6-pyruvoyl tetrahydropterin synthase from salmon liver: amino acid sequence analysis by tandem mass spectrometry

artículo científico publicado en 1992

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

artículo científico publicado en 2005

7-Substituted pterins. A new class of mammalian pteridines

scientific article published on 01 March 1990

7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins

artículo científico publicado el 15 de agosto de 1992

7-substituted pterins: formation and occurrence

artículo científico publicado el 1 de enero de 1992

A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy

scientific article published on 22 September 2011

A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece

artículo científico publicado en 1991

A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program

artículo científico publicado en 1995

A new semiautomated fluorometric method for estimation of small amounts of l-dopa in human urine ⬇️

artículo científico publicado el 1 de marzo de 1977

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa

artículo científico publicado en 2001

A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping

artículo científico publicado en 2001

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

artículo científico publicado en 1996

Advances and challenges in phenylketonuria

artículo científico publicado en 2010

Allosteric characteristics of GTP cyclohydrolase I from Escherichia coli

artículo científico publicado en 1992

Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency

scientific article published on 24 May 2017

Alternative therapies to address the unmet medical needs of patients with phenylketonuria

artículo científico publicado en 2015

Amino acid composition of brain cysts: levels of excitatory amino acids in cyst fluid fail to predict seizures

artículo científico publicado en 2003

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

artículo científico publicado en 2012

Analysis of 5-methyltetrahydrofolate in serum of healthy children

artículo científico publicado en 2005

Analysis of calcium, oxalate, and citrate interaction in idiopathic calcium urolithiasis in children

artículo científico publicado en 2003

Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.

artículo científico publicado en 1994

Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria

scientific article published on 01 June 2007

Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection

artículo científico publicado en 1992

Atypical presentation of distal renal tubular acidosis in two siblings

artículo científico publicado en 2008

Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants

artículo científico publicado en 2010

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

artículo científico publicado en 2005

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms

artículo científico publicado en 2008

Axillary artery-coronary artery bypass grafting

scientific article published on 01 January 1998

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

artículo científico publicado en 1998

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

artículo científico publicado en 2017

Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase

scientific article published on 01 May 1991

Biosynthesis and significance of neopterin in the immune system.

artículo científico

Can untreated PKU patients escape from intellectual disability? A systematic review

artículo científico publicado en 2018

Cerebral folate deficiency

artículo científico publicado en 2004

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

artículo científico publicado en 2010

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

artículo científico publicado en 2005

Cerebral folate deficiency: a neurometabolic syndrome?

artículo científico publicado en 2011

Cerebral folate deficiency: life-changing supplementation with folinic acid

artículo científico publicado en 2005

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

artículo científico publicado en 2003

Challenges and pitfalls in the management of phenylketonuria

artículo científico publicado en 2010

Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha

artículo científico publicado en 1995

Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency

artículo científico publicado en 2012

Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase

artículo científico publicado en 1996

Chronic treatment with tetrahydrobiopterin reverses endothelial dysfunction and oxidative stress in hypercholesterolaemia

artículo científico publicado en 2007

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

artículo científico publicado en 2010

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene

artículo científico publicado en 2014

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation

artículo científico publicado en 2016

Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency

scientific article published on 01 August 1994

Comparison of C-reactive protein and white blood cell count with differential in neonates at risk for septicaemia

artículo científico publicado en 1995

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

artículo científico publicado en 2017

Coronary artery fistula: estimation of shunt using 99m Tc-albumin particles

scientific article published on 01 January 1977

Critical role of interleukin-1beta for transcriptional regulation of endothelial 6-pyruvoyltetrahydropterin synthase

artículo científico publicado en 2003

Cytokine-induced metabolic effects in human adipocytes are independent of endogenous nitric oxide

artículo científico publicado en 2005

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU.

artículo científico publicado en 2008

Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies

artículo científico publicado en 2000

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency

artículo científico publicado en 2002

Determination of urine saturation with computer program EQUIL 2 as a method for estimation of the risk of urolithiasis

scientific article published on 01 July 1998

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

artículo científico publicado en 2001

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

artículo científico publicado en 2011

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

artículo científico publicado en 2011

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

artículo científico publicado en 2015

Diagnostic potential of neutrophil elastase inhibitor complex in the routine care of critically ill newborn infants

scientific article published on 01 September 2000

Differential diagnosis of disorders of biogenic amines metabolism

scientific article published on 01 January 1998

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

scientific article published on 01 August 1993

Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease

artículo científico publicado en 2011

Dihydropteridine reductase deficiency localized to the central nervous system ⬇️

artículo científico publicado el 1 de junio de 1998

Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia

artículo científico publicado en 2006

Diminished production of nitric oxide synthase cofactor tetrahydrobiopterin by rosiglitazone in adipocytes

artículo científico publicado en 2003

Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

artículo científico publicado en 2009

Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

artículo científico publicado en 2006

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

artículo científico publicado en 2006

Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency

artículo científico publicado en 2015

Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin

artículo científico publicado en 2003

Effect of BH(4) supplementation on phenylalanine tolerance

artículo científico publicado en 2008

Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport

artículo científico publicado en 2010

Effect of collection and preprocessing methods on neutrophil elastase plasma concentrations

scientific article published on 01 April 1998

Effect of high-protein meal plus aspartame ingestion on plasma phenylalanine concentrations in obligate heterozygotes for phenylketonuria

artículo científico publicado en 1994

Effects of activating and deactivating cytokines on the functionally linked tetrahydrobiopterin. No pathways in vascular smooth muscle cells

artículo científico publicado en 1996

Efficacy of oral citrate administration in primary hyperoxaluria

scientific article published on 01 January 1995

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

artículo científico publicado en 2006

Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity

scientific journal article

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study

artículo científico publicado en 2005

Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly

artículo científico publicado en 2011

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.

artículo científico

Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome

artículo científico publicado en 2007

Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits

artículo científico publicado en 2007

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient

artículo científico publicado en 2017

GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

artículo científico publicado en 1984

GTP-cyclohydrolase and vitiligo

artículo científico publicado en 1997

Gene expression profiling of inflamed human endothelial cells and influence of activated protein C.

artículo científico publicado en 2004

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1.

artículo científico publicado en 2017

Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.

artículo científico publicado en 2016

Genetics of Phenylketonuria: Then and Now.

artículo científico publicado en 2016

Genotype-phenotype correlation in dihydropteridine reductase deficiency

artículo científico publicado en 2000

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

artículo científico publicado en 2009

Guanosine triphosphate cyclohydrolase I assay in human and rat liver using high-performance liquid chromatography of neopterin phosphates and guanine nucleotides

artículo científico publicado en 1983

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.

artículo científico publicado en 2004

High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.

artículo científico publicado en 2002

Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis

artículo científico publicado en 1991

Human liver 6-pyruvoyl-tetrahydropterin synthase: expression of the cDNA, purification and preliminary characterization of the recombinant protein

artículo científico publicado en 1993

Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases

artículo científico publicado en 1993

Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives

artículo científico publicado en 1992

Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies

artículo científico publicado en 2000

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

scientific article published on 01 July 1993

Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia

artículo científico publicado en 1989

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

artículo científico publicado en 1998

Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl

artículo científico publicado en 1998

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families ⬇️

artículo científico publicado el 1 de enero de 1997

In vitro immunization with antigen directly blotted from SDS-polyacrylamide gels to polyvinylidene difluoride membranes

artículo científico publicado en 1993

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

artículo científico publicado en 2016

Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency

artículo científico publicado en 1985

Induction of tetrahydrobiopterin synthesis in human umbilical vein smooth muscle cells by inflammatory stimuli

artículo científico publicado en 1998

Influence of nutrition on urinary oxalate and calcium in preterm and term infants

scientific article published on 01 December 1997

Inhalation of the nitric oxide synthase cofactor tetrahydrobiopterin in healthy volunteers

artículo científico publicado en 1997

International database of tetrahydrobiopterin deficiencies

artículo científico publicado en 1996

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

artículo científico publicado en 2000

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

artículo científico publicado en 2017

Late diagnosis of primary hyperoxaluria after failed kidney transplantation

artículo científico publicado en 2009

Leonine facial appearances in cluster headache patients

artículo científico publicado en 1992

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria

artículo científico publicado en 2014

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

artículo científico publicado en 2013

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency

artículo científico publicado en 2004

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency

artículo científico publicado en 2006

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

artículo científico publicado en 2004

Long-term plasma exchange in a case of Refsum's disease

artículo científico publicado en 1991

Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin

artículo científico publicado en 2005

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria

artículo científico publicado en 2005

Management of phenylketonuria in Europe: survey results from 19 countries

artículo científico publicado en 2009

Massive hemopericardium in a patient with postmyocardial infarction syndrome

artículo científico publicado en 1977

Mental illness in mild PKU responds to biopterin

artículo científico publicado en 2002

Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice

artículo científico publicado en 2016

Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency

artículo científico publicado en 2007

Mitochondrial diseases associated with cerebral folate deficiency.

artículo científico publicado en 2008

Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency

artículo científico publicado en 2001

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

artículo científico publicado en 2014

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

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

artículo científico publicado en 2008

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients

artículo científico publicado en 1994

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

scientific article published on 01 January 1996

Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency

scientific article published on 01 December 1995

More transgenic mouse models of dopamine deficiency

artículo científico publicado en 2004

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

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes ⬇️

artículo científico publicado el 1 de enero de 1997

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene

article

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

artículo científico publicado en 1998

Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.

artículo científico publicado en 2003

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

artículo científico publicado en 2005

Neopterin and AIDS

scientific article published on 01 October 1988

Neopterin in AIDs, other immunodeficiencies, and bacterial and viral infections.

artículo científico publicado en 1986

Nephrolithiasis in a child with glucose-galactose malabsorption

artículo científico publicado en 2003

Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation

artículo científico publicado en 2016

New approaches to treat PKU: how far are we?

artículo científico publicado en 2004

New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins

artículo científico publicado en 1988

Nitric oxide production depends on preceding tetrahydrobiopterin synthesis by endothelial cells: selective suppression of induced nitric oxide production by sepiapterin reductase inhibitors.

artículo científico publicado en 1994

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

artículo científico publicado en 1993

Nitrite generation in interleukin-4-treated human macrophage cultures does not involve the nitric oxide synthase pathway

artículo científico publicado en 1997

Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.

artículo científico publicado en 2009

Nuclear localization of tetrahydrobiopterin biosynthetic enzymes

artículo científico publicado en 2004

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency

artículo científico publicado en 2011

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.

artículo científico publicado en 2009

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

artículo científico publicado en 2007

Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.

artículo científico publicado en 2010

Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

scientific article published on 07 November 2006

Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria.

artículo científico publicado en 2008

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

artículo científico publicado en 2009

Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12

artículo científico publicado en 2019

Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence

scientific journal article

Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test

artículo científico publicado en 2004

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values

artículo científico publicado en 2010

Phenylketonuria

scientific article published on 01 October 2010

Phenylketonuria Scientific Review Conference: state of the science and future research needs

artículo científico publicado en 2014

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

book by Nenad Blau

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia

scientific article published on 12 January 2013

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

artículo científico publicado en 2004

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

artículo científico publicado en 2012

Possible high frequency of tetrahydrobiopterin deficiency in south Brazil

artículo científico publicado en 1994

Possible impact of tetrahydrobiopterin and sepiapterin on endothelial dysfunction

artículo científico publicado en 2003

Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria

artículo científico publicado en 2003

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

artículo científico publicado en 2005

Prenatal diagnosis of atypical phenylketonuria

scientific article published on 01 January 1989

Primapterinuria: a new variant of atypical phenylketonuria

artículo científico publicado en 1989

Production of monoclonal antibodies against human 6-pyruvoyl tetrahydropterin synthase and immunocytochemical localization of the enzyme

artículo científico publicado en 1992

Progress in the study of biosynthesis and role of 7-substituted pterins: function of pterin-4a-carbinolamine dehydratase

scientific article published on 01 January 1993

Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype

artículo científico publicado en 1990

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

artículo científico publicado en 2002

Purification and characterization of 6-pyruvoyl tetrahydropterin synthase from human pituitary gland

artículo científico publicado en 1992

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).

artículo científico publicado en 2011

Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

artículo científico publicado en 2012

R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis

artículo científico publicado en 2003

Recessive mutations in PCBD1 cause a new type of early-onset diabetes

Reduced folate transport to the CNS in female Rett patients

artículo científico publicado en 2003

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency

artículo científico publicado en 2002

Regulation of 6-pyruvoyltetrahydropterin synthase activity and messenger RNA abundance in human vascular endothelial cells

artículo científico publicado en 1998

Regulation of the L-arginine-dependent and tetrahydrobiopterin-dependent biosynthesis of nitric oxide in murine macrophages

scientific article published on 01 April 1993

Retrovirus-mediated double transduction of the GTPCH and PTPS genes allows 6-pyruvoyltetrahydropterin synthase-deficient human fibroblasts to synthesize and release tetrahydrobiopterin.

artículo científico publicado en 1998

Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias ⬇️

artículo científico publicado el 27 de mayo de 2013

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

artículo científico publicado en 2005

Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper

artículo científico publicado en 1992

Separation of low molecular weight proteins with SDS-PAGE using taurine as a new trailing ion.

artículo científico publicado en 2001

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

artículo científico publicado en 2006

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

artículo científico publicado en 2009

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

artículo científico

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

artículo científico publicado en 2006

Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features

artículo científico publicado en 2010

Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II

artículo científico publicado en 1999

Serum bile acids determined with an RA 1000 analyzer

artículo científico publicado en 1985

Severe deformity of a Palmaz-Schatz stent after normal surgical manipulation.

artículo científico publicado en 1997

Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria

artículo científico publicado en 2005

Simple rapid method for the separation and quantitative analysis of carbohydrates in biological fluids

scientific article published on 01 September 1979

Simultaneous determination of oxalate, glycolate, citrate, and sulfate from dried urine filter paper spots in a pediatric population

artículo científico publicado en 1998

Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia

artículo científico publicado en 1999

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

artículo científico publicado en 2012

Spontaneous remission of Cushing's syndrome in a patient with an adrenal adenoma

artículo científico publicado en 1975

Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice

artículo científico publicado en 2005

Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans

artículo científico publicado en 1995

Successful treatment of phenylketonuria with tetrahydrobiopterin

artículo científico publicado en 2001

Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin

scientific article published on 01 January 1992

Systemic tetrahydrobiopterin (BH4) levels and coronary artery disease

scientific article published on 01 January 2000

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.

artículo científico publicado en 2015

Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency

artículo científico publicado en 1987

Tetrahydrobiopterin as another EDRF in man.

artículo científico publicado en 1994

Tetrahydrobiopterin biosynthesis, regeneration and functions

artículo científico publicado en 2000

Tetrahydrobiopterin control in phenylketonuria

artículo científico publicado en 2003

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

artículo científico publicado en 2001

Tetrahydrobiopterin deficiency and an international database of patients

artículo científico publicado en 1993

Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia.

artículo científico publicado en 1993

Tetrahydrobiopterin in biomedical research

artículo científico publicado en 2009

Tetrahydrobiopterin in the Treatment of Infantile Hypertrophic Pyloric Stenosis

artículo científico publicado en 1997

Tetrahydrobiopterin induced neonatal tyrosinaemia

scientific article published on 01 September 1996

Tetrahydrobiopterin is a secretory product of murine vascular endothelial cells.

artículo científico publicado en 1994

Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies

artículo científico publicado en 1996

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

artículo científico publicado en 2013

Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase

artículo científico publicado en 2008

Tetrahydrobiopterin synthesis precedes nitric oxide-dependent inhibition of insulin secretion in INS-1 rat pancreatic beta-cells.

artículo científico publicado en 1997

Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.

artículo científico

Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.

artículo científico publicado en 2003

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

artículo científico publicado en 2001

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation

artículo científico publicado en 2002

Tetrahydrobiopterin: biochemistry and pathophysiology

artículo científico publicado el 15 de septiembre de 2011

The application of 8-aminoguanosine triphosphate, a new inhibitor of GTP cyclohydrolase I, to the purification of the enzyme from human liver

artículo científico publicado en 1986

The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the basal ganglia and cerebellum

artículo científico publicado en 2007

The challenges of managing coexistent disorders with phenylketonuria: 30 cases.

artículo científico publicado en 2015

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response

artículo científico publicado en 2011

The neurochemistry of phenylketonuria.

artículo científico publicado en 2000

The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria

artículo científico publicado en 1992

The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles

artículo científico publicado en 2011

There is no doubt that the early identification of PKU and prompt and continuous intervention prevents mental retardation in most patients

artículo científico publicado en 2011

Treatable neurotransmitter deficiency in mild phenylketonuria

artículo científico publicado en 2001

Two Greek siblings with sepiapterin reductase deficiency.

artículo científico publicado en 2008

Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia

artículo científico publicado en 2002

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

artículo científico publicado en 2010

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

article

Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings

artículo científico publicado en 2012

Urinary oxalate excretion in urolithiasis and nephrocalcinosis

artículo científico publicado en 2000

Urinary saturation and nephrocalcinosis in preterm infants: effect of parenteral nutrition

artículo científico publicado en 1993

Use of a ruthenium(III), iron(II), and nickel(II) hexacyanometallate-modified graphite electrode with immobilized oxalate oxidase for the determination of urinary oxalate

artículo científico publicado en 2001

Value of the urinary stone promoters/inhibitors ratios in the estimation of the risk of urolithiasis

artículo científico publicado en 2000

[Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease]

artículo científico publicado en 1994

[Neck muscular tension due to repetitive work]

artículo científico publicado en 1980

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