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Lesch-Nyhan variant : Dystonia, ataxia, near-normal intelligence, and no self-mutilation

Author
ADLER, C. H1 ; WRABETZ, L2
[1] Movement Disorders Center, Department of Neurology, Graduate Hospital, Philadelphia, PA, United States
[2] Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA, United States
Conference title
Annual Symposia on Etiology, Pathogenesis, and Prevention of Parkinson's Disease and Hyperkinetic Movement Disorders
Conference name
Annual Symposia on Etiology, Pathogenesis, and Prevention of Parkinson's Disease and Hyperkinetic Movement Disorders (9 ; Miami, Florida 1996-10-13)
Author (monograph)
Parkinson Study Group (Funder/Sponsor)
Movement Disorder Society (Funder/Sponsor)
Source

Movement disorders. 1996, Vol 11, Num 5, pp 583-584 ; ref : 8 ref

ISSN
0885-3185
Scientific domain
Neurology
Publisher
Wiley, Hoboken, NJ
Publication country
United States
Document type
Conference Paper
Language
English
Keyword (fr)
Ataxie Dystonie Déficit Etude cas Forme clinique Homme Lesch Nyhan syndrome Symptomatologie Encéphale pathologie Enzymopathie Extrapyramidal syndrome Hyperuricémie Maladie héréditaire Mouvement involontaire Muscle strié pathologie Métabolisme pathologie Système nerveux central pathologie Système nerveux pathologie Trouble neurologique
Keyword (en)
Ataxia Dystonia Deficiency Case study Clinical form Human Lesch Nyhan syndrome Symptomatology Cerebral disorder Enzymopathy Extrapyramidal syndrome Hyperuricemia Genetic disease Involuntary movement Striated muscle disease Metabolic diseases Central nervous system disease Nervous system diseases Neurological disorder
Keyword (es)
Ataxia Distonía Déficiencia Estudio caso Forma clínica Hombre Lesch Nyhan síndrome Sintomatología Encéfalo patología Enzimopatía Extrapiramidal síndrome Hiperuricemia Enfermedad hereditaria Movimiento involuntario Músculo estriado patología Metabolismo patología Sistema nervosio central patología Sistema nervioso patología Trastorno neurológico
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders

Discipline
Metabolic diseases
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
3204154

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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