Disease: Hyperphenylalaninemia due to dehydratase deficiency
- 7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins
- An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia
- Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue
- Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?
- Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22
- Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies
- Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies
- Crystallization and preliminary crystallographic studies of recombinant dimerization cofactor of transcription factor HNF1/pterin-4 alpha-carbinolamine dehydratase from liver
- Disorders of biopterin metabolism
- Disorders of tetrahydrobiopterin homeostasis
- Disorders of tetrahydrobiopterin metabolism and their treatment
- Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq panel and Ion Torrent PGM sequencing
- Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing
- Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients
- Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center
- Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran
- Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia
- Human white blood cells and hair follicles are good sources of mRNA for the pterin carbinolamine dehydratase/dimerization cofactor of HNF1 for mutation detection
- Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives
- Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies
- 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)
- Interconversion of 6- and 7-substituted tetrahydropterins via enzyme-generated 4a-hydroxytetrahydropterin intermediates
- International database of tetrahydrobiopterin deficiencies
- Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency
- Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine
- Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies
- Molecular and metabolic bases of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies
- Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients
- Monoamine neurotransmitter deficiencies
- Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase
- Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
- Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients
- Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin
- Tetrahydrobiopterin and inherited hyperphenylalaninemias
- Tetrahydrobiopterin biosynthesis, regeneration and functions
- Tetrahydrobiopterin deficiency and an international database of patients
- Tetrahydrobiopterin is synthesized from 6-pyruvoyl-tetrahydropterin by the human aldo-keto reductase AKR1 family members
- Tetrahydrobiopterin: biochemistry and pathophysiology
- The dietary management of inborn errors of metabolism
- Three-dimensional structure of the bifunctional protein PCD/DCoH, a cytoplasmic enzyme interacting with transcription factor HNF1