Associated Papers
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Weissbach A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.
Fernández-Ramos JA et al.
Parkinsonism & Related Disorders, 2022
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M et al.
Scientific Reports, 2017
[Autosomal recessive GTPCH 1 deficiency: the importance of the analysis of neurotransmitters in cerebrospinal fluid].
Moreno-Medinilla EE et al.
Revista De Neurologia, 2016
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
Molero-Luis M et al.
Developmental Medicine and Child Neurology, 2013
Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.
Leuzzi V et al.
Jimd Reports, 2013
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.
López-Laso E et al.
Journal of Neurology, 2011
Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).
López-Laso E et al.
Journal of Neurology, 2009
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency.
López-Laso E et al.
Journal of the Neurological Sciences, 2007
Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency.
López-Laso E et al.
Clinical Biochemistry, 2006
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Thöny B et al.
Human Mutation, 2006
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