Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

(2011) Manju A Kurian et al.   LANCET NEUROLOGY

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

(2011) Aida Ormazabal et al.   MOVEMENT DISORDERS

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

(2011) Luisa Arrabal et al.   NEUROGENETICS

Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders

(2010) Elisa De Grandis et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

(2010) Manju A Kurian et al.   LANCET NEUROLOGY

Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

(2010) Mercedes Serrano et al.   MITOCHONDRION

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

(2010) Roser Pons et al.   MOVEMENT DISORDERS

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

Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines

(2008) Isaac Marín-Valencia et al.   CLINICAL BIOCHEMISTRY

Clinical Utility of Monoamine Neurotransmitter Metabolite Analysis in Cerebrospinal Fluid

(2008) K. Hyland   CLINICAL CHEMISTRY

Mitochondrial diseases mimicking neurotransmitter defects

(2008) Angels Garcia-Cazorla et al.   MITOCHONDRION

Levodopa therapy in a Lesch-Nyhan disease patient: Pathological, biochemical, neuroimaging, and therapeutic remarks

(2008) Mercedes Serrano et al.   MOVEMENT DISORDERS

Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

(2007) Sofia Duarte et al.   BRAIN & DEVELOPMENT

A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

(2007) Angeles Ruiz et al.   MOLECULAR GENETICS AND METABOLISM