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74 in total

1. Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.

Authors: K Hyland; T G Nygaard; J M Trugman; K J Swoboda; L A Arnold; S P Sparagana
Journal: J Inherit Metab Dis Date: 1999-05 Impact factor: 4.982

Review 2. Neurochemistry and defects of biogenic amine neurotransmitter metabolism.

Authors: K Hyland
Journal: J Inherit Metab Dis Date: 1999-06 Impact factor: 4.982

3. Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.

Authors: Jae-Hyeok Lee; Chang-Seok Ki; Dae-Seong Kim; Jae-Wook Cho; Kyung-Phil Park; Seonhye Kim
Journal: J Korean Med Sci Date: 2011-09-01 Impact factor: 2.153

Review 4. New approaches in the treatment of the dystonias.

Authors: N Diederich; C G Goetz; C L Comella
Journal: Klin Wochenschr Date: 1990-10-03

5. [Diagnosis of dopa-responsive dystonia after 34 years: complete remission after L-dopa treatment].

Authors: G Reichel; A Stenner
Journal: Nervenarzt Date: 2012-06 Impact factor: 1.214

6. GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.

Authors: P R Jarman; O Bandmann; C D Marsden; N W Wood
Journal: J Neurol Neurosurg Psychiatry Date: 1997-09 Impact factor: 10.154

Review 7. Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children.

Authors: Chang-Yong Tsao
Journal: J Child Neurol Date: 2011-11-08 Impact factor: 1.987

8. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Authors: J L K Van Hove; J Steyaert; G Matthijs; E Legius; P Theys; R Wevers; A Romstad; L B Møller; K Hedrich; D Goriounov; N Blau; C Klein; P Casaer
Journal: J Neurol Neurosurg Psychiatry Date: 2006-01 Impact factor: 10.154

9. Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).

Authors: Eduardo López-Laso; Juan José Ochoa-Sepúlveda; Juan José Ochoa-Amor; Enrique Bescansa-Heredero; Rafael Camino-León; Francisco Javier Gascón-Jiménez; Maria Elena Mateos-González; Juan Luis Pérez-Navero; José Ignacio Lao-Villadóniga; Aida Ormazabal; Rafael Artuch; Katrin Beyer
Journal: J Neurol Date: 2009-06-16 Impact factor: 4.849

Review 10. Clinical variants of idiopathic torsion dystonia.

Authors: S Fahn
Journal: J Neurol Neurosurg Psychiatry Date: 1989-06 Impact factor: 10.154