Results 111 to 120 of about 2,250 (157)

Lesch‐Nyhan syndrome in a girl

Journal of Inherited Metabolic Disease, 1992
Lesch-Nyhan syndrome (McKusick 308000) is characterized by hyperuricaemia, choreoathetosis, spasticity, mental retardation, and self-mutilation. This disorder results from a complete deficiency of hypoxanthine phosphoribosyltransferase (HPRT), an enzyme encoded by a single gene on the X chromosome (Xq26-q27) (Stout and Caskey 1989), and has already ...
Van Bogaert, Patrick, Ceballos, I, Desguerre, I, Telvi, L, Kamoun, P, Ponsot, G   +5 more
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Disassembly of microtubules in the lesch-nyhan syndrome?

Klinische Wochenschrift, 1979
The Lesch-Nyhan syndrome is an unusual disease. It combines neurological disorders, behavioural disturbances, metabolic changes and haematological symptoms. The syndrome is caused by an X-chromosomal transmitted enzyme deficiency of the 'salvage pathway' in purine metabolism.
W, Schneider, E, Morgenstern, H J, Reimers   +2 more
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Lesch‐Nyhan syndrome

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, M V, Johnston, R J, Hutchinson, N L, Edwards   +3 more
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The Lesch-Nyhan Syndrome

Enzymologia biologica et clinica, 2017
The Lesch-Nyhan syndrome is X-chromosome- linked and its cardinal features are mental retardation, cho- reoathetosis and self-mutilating behavior. Two metabolically abnormal conditions are always associated with this syndrome. One is hyperuricemia, the cause of which is a deficiency or absence of the enzyme, hypoxanthine-guanine ...
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Neurotransmitters and the Lesch-Nyhan Syndrome

New England Journal of Medicine, 1981
Attempts to explain the pathogenesis of neuropsychiatric disorders are frustrated by the fragmentary information available relating neurochemistry to brain function.
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Diagnosis of the Lesch-Nyhan Syndrome

JAMA: The Journal of the American Medical Association, 1970
To the Editor:— Although the assay for hypoxanthine-guanine phosphoribosyl transferase deficiency described by Frost et al ( 212 :316, 1970) is very interesting, it does not appear to have any advantage as a diagnostic test of Lesch-Nyhan syndrome compared with the assay of blood samples, such as described by Seegmiller et al 1 and by Berman et al ...
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Behavior in the Lesch-Nyhan syndrome

Journal of Autism and Childhood Schizophrenia, 1976
The Lesch--Nyhan syndrome is a heritable disorder of the metabolism of uric acid in which behavioral manifestations are prominent and among the most provocative. The mutated or variant gene that determines this disorder is carried on the X chromosome. The disease is expressed exclusively in males. The molecular expression of the abnormal gene is in the
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[Lesch-Nyhan syndrome].

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 LESCH‐NYHAN SYNDROME

Developmental Medicine & Child Neurology, 1969
  +6 more sources

Anesthesia and the Lesch-Nyhan Syndrome

Anesthesiology, 1985
L O, Larson, R G, Wilkins
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