What syndrome is this?

Pediatric Dermatology

Volumn 13, Issue 2, 1996, Pages 169-170

  Schepis, Carmelo ^a   Greco, Donatella ^a   Siragusa, Maddalena ^a   Romano, Corrado ^a  

^a OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALLOPURINOL; AMINO ACID; ASPARTIC ACID; GUANINE; GUANOSINE PHOSPHATE; HYPOXANTHINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INOSINE PHOSPHATE; PHOSPHORIBOSYL PYROPHOSPHATE; URIC ACID;

AMINO ACID SUBSTITUTION; AMNIOCENTESIS; ARTICLE; AUTOMUTILATION; CASE REPORT; CHILD; ENZYME ACTIVITY; GENE; GENE MUTATION; HUMAN; HYPERURICEMIA; KIDNEY DISEASE; LESCH NYHAN SYNDROME; MALE; NEPHROLITHIASIS; PRIORITY JOURNAL; DIFFERENTIAL DIAGNOSIS; EXON; GENETICS; PATHOPHYSIOLOGY; POINT MUTATION; X CHROMOSOME;

CHILD; DIAGNOSIS, DIFFERENTIAL; EXONS; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; POINT MUTATION; X CHROMOSOME;

EID: 0030090519     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1525-1470.1996.tb01428.x     Document Type: Article

References (5)

1. Nyhan WL, Sakati NO. Lesch-Nyhan disease. In: Nyhan WL, Sakati NO, eds. Diagnostic recognition of genetic disease. Philadelphia: Lea & Febiger, 1987: 1-8.
2. Reed WB, Fish CH. Hyperuricemia with self-mutilation and choreo-athetosis. Lesch-Nyhan syndrome. Arch Dermatol 1966;94:194-195.
3. Sculley DG, Dawson PA, Emmerson BT, Gordon RB. A review of the molecular basis of hypoxantineguanine phosphoribosyltransferase (HGPRT) deficiency. Hum Genet 1992;90:195-207.
4. Jankovic J, Caskey TC, Stout JT, Butler IJ. Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. Ann Neurol 1988;23:466-469.
5. Mateos Anton F, Garcia Puig J. Prenatal diagnosis of Lesch-Nyhan syndrome. Neurologia 1992;7:63-69.