Results 171 to 180 of about 7,545 (235)

E Pluribus, Unum: Emergent Redox Harmony from the Chaos of Blood Cells. [PDF]

Antioxidants (Basel)
Anastasiadi AT, D'Alessandro A.
europepmc   +1 more source

Purinosomes and Purine Metabolism in Mammalian Neural Development: A Review. [PDF]

Acta Histochem Cytochem
Yamada S, Mizukoshi T, Sato A, Sakakibara SI.   +3 more
europepmc   +1 more source

Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease. [PDF]

Pediatr Neurol
Visser JE, Chorin O, Jinnah HA.
europepmc   +1 more source

Gene Expression Analysis of HPRT-Deficient Cells Maintained with Physiological Levels of Folic Acid. [PDF]

Cells
Torres RJ, Valentines-Casas G, Cano-Estrada C, Ontiveros N, López JM.   +4 more
europepmc   +1 more source

A mechanism of global gene expression regulation is disrupted by multiple disease states and drug treatments. [PDF]

PLoS One
Pickard BS.
europepmc   +1 more source

P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis

Genetics in Medicine Open
Joseph Biddle, Teresa Campbell, Alba Sanchis-Juan, Gabrielle Lemire, Lance Rodan, Melanie O'Leary, Christina Austin-Tse, Anne O'Donnell-Luria, Laurie Sadler   +8 more
doaj  

WCN24-2073 Xanthine Incrustation in JJ Stents: a Rare Complication of Urate-Lowering Therapy in Lesch-Nyhan Syndrome with Kidney Stones

Kidney International Reports
Maria Rosa Caruso, Riccardo Bartoletti, Simone Malloggi, Matteo Pacini, Paolo Betti   +4 more
doaj  

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The Lesch-Nyhan Syndrome

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.
Claudia F. Cheatham, Larry H. Dizmang
openaire   +4 more sources

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
W. Nyhan
openaire   +4 more sources