Attenuated variants of Lesch-Nyhan disease

Brain

Volumn 133, Issue 3, 2010, Pages 671-689

  Jinnah, H A ^a   Ceballos Picot, Irene ^b   Torres, Rosa J ^c   Visser, Jasper E ^d   Schretlen, David J ^e   Verdu, Alfonso ^f   Laróvere, Laura E ^g   Chen, Chung Jen ^h   Cossu, Antonello ⁱ   Wu, Chien Hui ^j   Sampat, Radhika ^a   Chang, Shun Jen ^k   De Kremer, Raquel Dodelson ^g   Nyhan, William ^l   Harris, James C ^m   Reich, Stephen G ⁿ   Puig, Juan G ^o  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f HOSPITAL VIRGEN DE LA SALUD   (Spain)

^g UNIVERSIDAD NACIONAL DE CÓRDOBA   (Argentina)

^h CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

ⁱ UNIVERSITY OF SASSARI   (Italy)

^j Wu Chien Hui's Clinic   (Taiwan)

^k KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m JOHNS HOPKINS UNIVERSITY   (United States)

ⁿ UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^o UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

more..

Author keywords

Behaviour; Dystonia; Genotype phenotype correlation; Kelly Seegmiller syndrome; Metabolic disease; Neurogenetics; Uric acid

Indexed keywords

ALLOPURINOL; ANTIHYPERTENSIVE AGENT; BACLOFEN; BENZODIAZEPINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; TRIHEXYPHENIDYL; URIC ACID;

ADOLESCENT; ADULT; AGED; ARTICLE; ATTENUATION; AUTOMUTILATION; BEHAVIOR DISORDER; CHILD; COGNITION; COHORT ANALYSIS; CONTROLLED STUDY; COORDINATION DISORDER; DISEASE SEVERITY; FEMALE; GENERALIZED DYSTONIA; HUMAN; HYPERTENSION; LESCH NYHAN SYNDROME; MAJOR CLINICAL STUDY; MALADJUSTMENT; MALE; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCHOOL CHILD; URIC ACID BLOOD LEVEL;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; CHILD, PRESCHOOL; COGNITION DISORDERS; COHORT STUDIES; DYSKINESIAS; HUMANS; LESCH-NYHAN SYNDROME; MENTAL DISORDERS; MIDDLE AGED; PHENOTYPE; PROSPECTIVE STUDIES; URIC ACID; YOUNG ADULT;

EID: 77950199824     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq013     Document Type: Article

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