Results 161 to 170 of about 5,948 (186)
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Neurology, 1985
Serial determinations of spinal fluid homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) were made in four patients with the Lesch-Nyhan syndrome over a 5-year period. Control spinal fluids for age-matched comparison were obtained from 194 neurologic and nonneurologic pediatric patients.
F S, Silverstein +3 more
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Serial determinations of spinal fluid homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) were made in four patients with the Lesch-Nyhan syndrome over a 5-year period. Control spinal fluids for age-matched comparison were obtained from 194 neurologic and nonneurologic pediatric patients.
F S, Silverstein +3 more
openaire +2 more sources
Archivio stomatologico, 1989
The A.A. outline the Lesch-Nyhan syndrome describing its natural history, etiology, pathology, anatomo-pathology and the clinical, diagnostic and therapeutic principles.
SPERA M, PALOMBA F, RULLO, Rosario
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The A.A. outline the Lesch-Nyhan syndrome describing its natural history, etiology, pathology, anatomo-pathology and the clinical, diagnostic and therapeutic principles.
SPERA M, PALOMBA F, RULLO, Rosario
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Hyperuricemia (Lesch-Nyhan Disease)
2005Abstract This chapter discusses hyperuricemias, specifically Lesch-Nyhan disease. The associated biochemical abnormalities, factors to be considered in the diagnostic evaluation, management (e.g., nutritional care), and follow-up care are described.
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2008
Lesch- Nyhan syndrome (LNS) is a rare X-linked disorder of purine metabolism associated with hyperuricemia and caused by absence or near complete absence of the enzyme hypoxanthine- guanine phosphoriboxyl transferase (HGPRT), essential for purine salvage (Nyhan 2004, Seegmiller et al. 1967, Torres and Puig 2007).
Ignacio Pascual-Castroviejo +1 more
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Lesch- Nyhan syndrome (LNS) is a rare X-linked disorder of purine metabolism associated with hyperuricemia and caused by absence or near complete absence of the enzyme hypoxanthine- guanine phosphoriboxyl transferase (HGPRT), essential for purine salvage (Nyhan 2004, Seegmiller et al. 1967, Torres and Puig 2007).
Ignacio Pascual-Castroviejo +1 more
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2010
Lesch–Nyhan disease results from mutations of the gene encoding the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase. Patients typically suffer generalized dystonia, recurrent self-injurious behavior, cognitive disability, and overproduction of uric acid.
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Lesch–Nyhan disease results from mutations of the gene encoding the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase. Patients typically suffer generalized dystonia, recurrent self-injurious behavior, cognitive disability, and overproduction of uric acid.
openaire +1 more source