Disease: Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
- BH(4) deficiency identified in a neonatal screening program for hyperphenylalaninemia
- BH<sub>4</sub> deficiency identified in a neonatal screening program for hyperphenylalaninemia
- Common and rare GCH1 variants are associated with Parkinson's disease
- GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia
- GCH1 mutations in hereditary spastic paraplegia
- Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1
- GTP-cyclohydrolase deficiency induced peripheral and deep microcirculation dysfunction with age
- GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report
- Intestinal microbiota as a tetrahydrobiopterin exogenous source in hph-1 mice
- Ionizing radiation induces BH(4) deficiency by downregulating GTP-cyclohydrolase 1, a novel target for preventing and treating radiation enteritis
- Ionizing radiation induces BH<sub>4</sub> deficiency by downregulating GTP-cyclohydrolase 1, a novel target for preventing and treating radiation enteritis
- Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse model
- Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies
- Molecular and metabolic bases of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies
- Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
- Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients
- Tetrahydrobiopterin deficiencies: Lesson from clinical experience
- Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice
- The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency