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Research article

First published 2017

Anesthetic considerations in scoliosis patient with dopa-responsive dystonia or Segawa’s syndrome

M Shahnaz Hasan, Kok Weng Leong, Chris Yin Wei Chan [...]

Journal of Orthopaedic Surgery

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Research article

First published 2015-5

Growth Hormone Deficiency in a Dopa-Responsive Dystonia Patient With a Novel Mutation of Guanosine Triphosphate Cyclohydrolase 1 Gene

Yu Lin, Dan-Ni Wang, Wan-Jin Chen [...]

Journal of Child Neurology

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Review article

First published 2012-3

Guanine Triphosphate–Cyclohydrolase 1–Deficient Dopa-Responsive Dystonia Presenting as Frequent Falling in 2 Children

Chang-Yong Tsao

Journal of Child Neurology

Open access

Research article

First published 2011-2

A Novel Compound Heterozygous Tyrosine Hydroxylase Mutation (p.R441P) with Complex Phenotype

Kristoffer Haugarvoll, Laurence A. Bindoff

Journal of Parkinson’s Disease

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Other

First published 2011-2

Expanding Phenotype and Clinical Analysis of Tyrosine Hydroxylase Deficiency

Wai-lan Yeung, Virginia C. N. Wong, Kwok-yin Chan [...]

Journal of Child Neurology

Free access

Case report

First published 2017

L-DOPA therapy interferes with urine catecholamine analysis in children with suspected neuroblastoma: a case series

Alison U Kelly, Rajeev Srivastava, Ellie Dow [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Other

First published 1999-02

Progressive Dystonia in a Child With Chromosome 18p Deletion,Treated With Intrathecal Baclofen

Yasser Awaad, Sharon Munoz, Michael Nigro

Journal of Child Neurology

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Review article

First published 2012-4

A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy

Teresa Giovanniello, Dianella Claps, Carla Carducci [...]

Journal of Child Neurology

Open access

Review article

First published 2022

A Practical Approach to Early-Onset Parkinsonism

Giulietta M. Riboldi, Emanuele Frattini, Edoardo Monfrini [...]

Journal of Parkinson’s Disease

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Research article

First published 2019-11

Neuronal Intranuclear Inclusion Disease: Longitudinal Case Report of Motor and Nonmotor Symptoms

Jennifer Vermilion, Mahlon Johnson, Jayasri Srinivasan [...]

Journal of Child Neurology

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