Results 131 to 140 of about 2,914 (160)
Autism spectrum disorder and inherited metabolic diseases: are there any common features? [PDF]
Pediatr Endocrinol Diabetes MetabLipiński P.
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E Pluribus, Unum: Emergent Redox Harmony from the Chaos of Blood Cells. [PDF]
Antioxidants (Basel)Anastasiadi AT, D'Alessandro A.
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Urology, 1982
Three cases of severe involvement of the kidney with calculi in patients with the Lesch-Nyhan syndrome are presented. Two patients have radiolucent uric acid calculi. The biochemistry and pathology of the Lesch-Nyhan syndrome is discussed. Mechanisms in one family is traced over five generations.
R H, Steadman, G, McIntosh, B D, Gross
+6 more sources
Three cases of severe involvement of the kidney with calculi in patients with the Lesch-Nyhan syndrome are presented. Two patients have radiolucent uric acid calculi. The biochemistry and pathology of the Lesch-Nyhan syndrome is discussed. Mechanisms in one family is traced over five generations.
R H, Steadman, G, McIntosh, B D, Gross
+6 more sources
2011
Abstract This chapter provides pictures and clinical details of LESCH-NYHAN ...
Roger E. Stevenson +2 more
+5 more sources
Abstract This chapter provides pictures and clinical details of LESCH-NYHAN ...
Roger E. Stevenson +2 more
+5 more sources
American Journal of Psychiatry, 1970
The authors report their observations of five children with the Lesch-Nyhan syndrome and review the literature to describe the general characteristics of the disorder, the development and types of self-mutilative behavior, and the types of outward-directed aggression.
L H, Dizmang, C F, Cheatham
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The authors report their observations of five children with the Lesch-Nyhan syndrome and review the literature to describe the general characteristics of the disorder, the development and types of self-mutilative behavior, and the types of outward-directed aggression.
L H, Dizmang, C F, Cheatham
openaire +2 more sources
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
openaire +2 more sources
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
openaire +1 more source