Lesch-nyhan variant syndrome: Variable presentation in 3 affected family members

Archives of Neurology

Volumn 67, Issue 6, 2010, Pages 761-764

  Sarafoglou, Kyriakie ^a   Grosse Redlinger, Krista ^a   Boys, Christopher J ^a   Charnas, Laurence ^a,c   Otten, Noelle ^a   Broock, Robyn ^b   Nyhan, William L ^b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c Research Institute for Genetic and Human Therapy   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; URATE; URIC ACID;

AGED; ARTICLE; CASE REPORT; CLINICAL FEATURE; COGNITION; ENZYME ACTIVITY; GENE MUTATION; HUMAN; INFANT; LESCH NYHAN SYNDROME; MALE; NEUROPHYSIOLOGY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

AGED; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MUTATION;

EID: 77953639403     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2010.116     Document Type: Article

References (13)

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