GTP Cyclohydrolase 1 Deficiency Latest Advances

Tyrosinase-Deficient Skin Melanophore Lineage in Xenopus tropicalis Tadpoles Shows Strong Autofluorescence.

Journal: International journal of molecular sciences

Published: January 04, 2026

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.

Journal: Molecular genetics and metabolism

Published: November 19, 2025

Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: October 09, 2025

Zinc-metallochaperones of Aspergillus fumigatus are involved in ROS production and folate biosynthesis during zinc deficiency.

Journal: Microbiology spectrum

Published: September 23, 2025

Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.

Journal: BMC medical genomics

Published: September 16, 2025

The Role of GCH1 Deficiency and Tetrahydrobiopterin in Mental Health.

Journal: International journal of molecular sciences

Published: July 11, 2025

Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.

Journal: Brain & development

Published: February 27, 2025

Enhanced folate content in bioengineered lettuce stably expressed under field conditions.

Journal: Transgenic research

Published: January 18, 2025

GCH1 contributes to high-altitude adaptation in Tibetans by regulating blood nitric oxide.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: October 11, 2024

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Journal: Movement disorders clinical practice

Published: April 18, 2024

Reversal of Pulmonary Hypertension in a Human-Like Model: Therapeutic Targeting of Endothelial DHFR.

Journal: Circulation research

Published: February 01, 2024

Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse model.

Journal: European journal of pharmacology

Published: September 24, 2023

GTP Cyclohydrolase 1 Deficiency Latest Advances

Find the Latest Research About GTP Cyclohydrolase 1 Deficiency

Tyrosinase-Deficient Skin Melanophore Lineage in Xenopus tropicalis Tadpoles Shows Strong Autofluorescence.

Tyrosinase-Deficient Skin Melanophore Lineage in Xenopus tropicalis Tadpoles Shows Strong Autofluorescence.

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.

Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.

Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.

Zinc-metallochaperones of Aspergillus fumigatus are involved in ROS production and folate biosynthesis during zinc deficiency.

Zinc-metallochaperones of Aspergillus fumigatus are involved in ROS production and folate biosynthesis during zinc deficiency.

Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.

Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.

The Role of GCH1 Deficiency and Tetrahydrobiopterin in Mental Health.

The Role of GCH1 Deficiency and Tetrahydrobiopterin in Mental Health.

Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.

Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.

Enhanced folate content in bioengineered lettuce stably expressed under field conditions.

Enhanced folate content in bioengineered lettuce stably expressed under field conditions.

GCH1 contributes to high-altitude adaptation in Tibetans by regulating blood nitric oxide.

GCH1 contributes to high-altitude adaptation in Tibetans by regulating blood nitric oxide.

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Reversal of Pulmonary Hypertension in a Human-Like Model: Therapeutic Targeting of Endothelial DHFR.

Reversal of Pulmonary Hypertension in a Human-Like Model: Therapeutic Targeting of Endothelial DHFR.

Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse model.

Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse model.