Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

(2014) Joanne Ng et al.   BRAIN

What is the role of dopamine in childhood neurological disorders?

(2013) Manju A Kurian   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

O61 – 1802 Tyrosine hydroxylase deficiency. The Greek experience

(2013) R Pons et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

(2013) Roser Pons et al.   MOVEMENT DISORDERS

Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency

(2013) Mario Mastrangelo et al.   MOVEMENT DISORDERS

Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment

(2013) Jennifer J. Rilstone et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid

(2012) Katarzyna Derwińska et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency

(2012) M. Grapp et al.   BRAIN

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

(2012) Thomas Opladen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Dopamine agonists in dihydropteridine reductase deficiency

(2012) Francesco Porta et al.   MOLECULAR GENETICS AND METABOLISM

Child Neurology: Paroxysmal stiffening, upward gaze, and hypotonia: Hallmarks of sepiapterin reductase deficiency

(2012) P. Dill et al.   NEUROLOGY

Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease

(2012) Eduardo López-Laso et al.   PEDIATRIC NEUROLOGY

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

(2011) Jennifer Friedman et al.   ANNALS OF NEUROLOGY

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency

(2011) Sandra Brasil et al.   HUMAN MUTATION

Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy

(2011) Jae-Hyeok Lee et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

(2011) Manju A Kurian et al.   LANCET NEUROLOGY

Multiple coregulatory control of tyrosine hydroxylase gene transcription

(2011) S. D. N. Reddy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

(2010) M. A. Willemsen et al.   BRAIN

Hereditary progressive dystonia with marked diurnal fluctuation

(2010) Masaya Segawa   BRAIN & DEVELOPMENT

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency

(2010) RUSSELL C DALE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Efficacy, safety and tolerability of Symbyax®for acute-phase management of treatment-resistant depression

(2010) William V Bobo et al.   Expert Review of Neurotherapeutics

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

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

(2010) Manju A Kurian et al.   LANCET NEUROLOGY

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

(2010) Thomas Opladen et al.   MOVEMENT DISORDERS

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

(2010) L. Brun et al.   NEUROLOGY

Movement disorders in children: Recent advances in management

(2009) Emilio Fernández-Alvarez   INDIAN JOURNAL OF PEDIATRICS

Disorders of biopterin metabolism

(2009) Nicola Longo   JOURNAL OF INHERITED METABOLIC DISEASE

Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up

(2009) C. Manegold et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

(2009) I Trender-Gerhard et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A new perspective on the treatment of aromatic l-amino acid decarboxylase deficiency

(2009) George F.G. Allen et al.   MOLECULAR GENETICS AND METABOLISM

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

(2009) F. Porta et al.   NEUROLOGY

Aromatic l-amino acid decarboxylase deficiency in Taiwan

(2008) Hsiu-Fen Lee et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Quantitative Regulation of Intracellular Endothelial Nitric-oxide Synthase (eNOS) Coupling by Both Tetrahydrobiopterin-eNOS Stoichiometry and Biopterin Redox Status

(2008) Mark J. Crabtree et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms

(2008) Gabriella A. Horvath et al.   MOLECULAR GENETICS AND METABOLISM

The pathophysiological basis of dystonias

(2008) Xandra O. Breakefield et al.   NATURE REVIEWS NEUROSCIENCE

Results from a phase I safety trial of hAADC gene therapy for Parkinson disease

(2008) J. L. Eberling et al.   NEUROLOGY

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

(2007) Leandra Jäggi et al.   MOLECULAR GENETICS AND METABOLISM