Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Authors
Keywords
-
Journal
Orphanet Journal of Rare Diseases
Volume 15, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-05-27
DOI
10.1186/s13023-020-01379-8
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future
- (2019) Sabine Jung-Klawitter et al. Cells
- Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders
- (2018) O. Kuseyri et al. JOURNAL OF INHERITED METABOLIC DISEASE
- DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias
- (2018) Nenad Blau et al. MOLECULAR GENETICS AND METABOLISM
- Transition von der Neuropädiatrie zur Neurologie bei neuromuskulären Erkrankungen
- (2018) U. Schara et al. NERVENARZT
- Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment
- (2018) Heiko Brennenstuhl et al. NEUROPEDIATRICS
- l-Dopa in dystonia
- (2017) Roderick P.P.W.M. Maas et al. NEUROLOGY
- Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
- (2017) Tessa Wassenberg et al. Orphanet Journal of Rare Diseases
- The complete European guidelines on phenylketonuria: diagnosis and treatment
- (2017) A. M. J. van Wegberg et al. Orphanet Journal of Rare Diseases
- GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia
- (2017) Valerija Dobričić et al. PARKINSONISM & RELATED DISORDERS
- Noradrenergic Modulation of Cognition in Health and Disease
- (2017) Olga Borodovitsyna et al. NEURAL PLASTICITY
- Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency
- (2016) Francesco Porta et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Transdermal rotigotine in dihydropteridine reductase deficiency
- (2016) Alberto Romagnolo et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU)
- (2016) Shelley R. Winn et al. MOLECULAR GENETICS AND METABOLISM
- What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa
- (2016) Jennifer R. Friedman PEDIATRIC NEUROLOGY
- Acute phenylalanine/tyrosine depletion of phasic dopamine in the rat brain
- (2016) Tatiana A. Shnitko et al. PSYCHOPHARMACOLOGY
- Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring—Implications for clinical management of patients with hyperphenylalaninemia
- (2015) Urh Groselj et al. CLINICAL BIOCHEMISTRY
- A requirement for Gch1 and tetrahydrobiopterin in embryonic development
- (2015) Gillian Douglas et al. DEVELOPMENTAL BIOLOGY
- Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency
- (2015) Claudia Carducci et al. MOLECULAR GENETICS AND METABOLISM
- Monoamine neurotransmitter disorders—clinical advances and future perspectives
- (2015) Joanne Ng et al. Nature Reviews Neurology
- Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
- (2014) J. Koht et al. ACTA NEUROLOGICA SCANDINAVICA
- Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
- (2014) Niccolò E. Mencacci et al. BRAIN
- Disturbed biopterin and folate metabolism in theQdpr-deficient mouse
- (2014) Feng Xu et al. FEBS LETTERS
- Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing
- (2014) Yan-yan Cao et al. MOLECULAR GENETICS AND METABOLISM
- Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
- (2014) Matthias R Baumgartner et al. Orphanet Journal of Rare Diseases
- Tetrahydrobiopterin: biochemistry and pathophysiology
- (2013) Ernst R. Werner et al. BIOCHEMICAL JOURNAL
- Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting
- (2013) S. Ferre et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Comparative efficacy and tolerability of 15 antipsychotic drugs in schizophrenia: a multiple-treatments meta-analysis
- (2013) Stefan Leucht et al. LANCET
- Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia
- (2013) Thomas Opladen et al. MOLECULAR GENETICS AND METABOLISM
- Medical treatment of dystonia
- (2013) Joseph Jankovic MOVEMENT DISORDERS
- Very early pattern of movement disorders in sepiapterin reductase deficiency
- (2013) V. Leuzzi et al. NEUROLOGY
- Beneficial Prenatal Levodopa Therapy in Autosomal Recessive Guanosine Triphosphate Cyclohydrolase 1 Deficiency
- (2012) Norbert Brüggemann et al. ARCHIVES OF NEUROLOGY
- Dopa-Responsive Dystonia Revisited
- (2012) Vera Tadic et al. ARCHIVES OF NEUROLOGY
- Two novel mutations of the GTP cyclohydrolase 1 gene and genotype–phenotype correlation in Chinese Dopa-responsive dystonia patients
- (2012) Lihua Yu et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia
- (2012) Thomas Opladen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study
- (2012) Jun Ye et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Dopamine agonists in dihydropteridine reductase deficiency
- (2012) Francesco Porta et al. MOLECULAR GENETICS AND METABOLISM
- Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease
- (2012) Eduardo López-Laso et al. PEDIATRIC NEUROLOGY
- Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy
- (2011) Jennifer Friedman et al. ANNALS OF NEUROLOGY
- 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
- Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease
- (2011) Eduardo López-Laso et al. JOURNAL OF NEUROLOGY
- Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria
- (2011) Rani H. Singh et al. MOLECULAR GENETICS AND METABOLISM
- Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
- (2011) Nenad Blau et al. MOLECULAR GENETICS AND METABOLISM
- Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
- (2011) Luisa Arrabal et al. NEUROGENETICS
- A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood
- (2011) Ebba Lohmann et al. PARKINSONISM & RELATED DISORDERS
- Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
- (2010) V Leuzzi et al. CLINICAL GENETICS
- Adeverse Effects of Trimethoprim-sulfamethoxazole in a Child with Dihydropteridine Reductase Deficiency
- (2010) Robert C. Woody et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency
- (2010) RUSSELL C DALE et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation
- (2010) Pascale E. Karam et al. JOURNAL OF CHILD NEUROLOGY
- Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values
- (2010) Thomas Opladen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Phenylketonuria
- (2010) Nenad Blau et al. LANCET
- GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia
- (2010) Xin Liu et al. MOVEMENT DISORDERS
- 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
- Dopamine in Motivational Control: Rewarding, Aversive, and Alerting
- (2010) Ethan S. Bromberg-Martin et al. NEURON
- Uneventful Electroconvulsive Therapy in a Patient With Dopa-Responsive Dystonia (Segawa Syndrome)
- (2009) Pascal Sienaert et al. JOURNAL OF ECT
- Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up
- (2009) K. Kusmierska et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain)
- (2009) Eduardo López-Laso et al. JOURNAL OF NEUROLOGY
- Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients
- (2009) I Trender-Gerhard et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Optimizing the use of sapropterin (BH4) in the management of phenylketonuria
- (2009) Nenad Blau et al. MOLECULAR GENETICS AND METABOLISM
- Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses☆
- (2009) M.J. de Groot et al. MOLECULAR GENETICS AND METABOLISM
- Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency
- (2009) F. Porta et al. NEUROLOGY
- Clinical Utility of Monoamine Neurotransmitter Metabolite Analysis in Cerebrospinal Fluid
- (2008) K. Hyland CLINICAL CHEMISTRY
- 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
- Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase
- (2008) Beat Thny et al. JOURNAL OF NEUROCHEMISTRY
- Two Greek siblings with sepiapterin reductase deficiency
- (2008) Marcel M. Verbeek et al. MOLECULAR GENETICS AND METABOLISM
- Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms
- (2008) Gabriella A. Horvath et al. MOLECULAR GENETICS AND METABOLISM
- Cardiac and noncardiac fibrotic reactions caused by ergot-and nonergot-derived dopamine agonists
- (2008) Frank Andersohn et al. MOVEMENT DISORDERS
- A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of l-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels
- (2007) Atsushi Ogawa et al. BRAIN & DEVELOPMENT
- Noradrenergic modulation of arousal
- (2007) Craig W. Berridge BRAIN RESEARCH REVIEWS
- Frequency of GCH1 deletions in Dopa-responsive dystonia
- (2007) B Zirn et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency
- (2007) Leandra Jäggi et al. MOLECULAR GENETICS AND METABOLISM
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started