Found: 12
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Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.88510
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- Article
Molecular insight into thiopurine resistance: transcriptomic signature in lymphoblastoid cell lines.
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- Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0150-6
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- Article
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0219-0
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- Article
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 39, doi. 10.1186/s13023-014-0219-0
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- Article
Clinical utility gene card for: Lesch-Nyhan Syndrome - update 2013.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.304
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- Article
Adenine phosphoribosyltransferase deficiency in children.
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- Pediatric Nephrology, 2012, v. 27, n. 4, p. 571, doi. 10.1007/s00467-011-2037-0
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- Article
Clinical utility gene card for: Lesch-Nyhan syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.109
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- Article
Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
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- Movement Disorders, 2010, v. 25, n. 11, p. 1605, doi. 10.1002/mds.23134
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- Article
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 133, doi. 10.1038/ejhg.2008.174
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- Article
Expression and Activity of Cyclin-Dependent Kinases and Glycogen Synthase Kinase-3 during NT2 Neuronal Differentiation.
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- NeuroSignals (Karger AG), 2004, v. 13, n. 3, p. 134, doi. 10.1159/000076567
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- Article
The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
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- Human Mutation, 1998, v. 11, p. S88, doi. 10.1002/humu.1380110130
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- Article
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
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- Human Mutation, 1996, v. 7, n. 1, p. 52, doi. 10.1002/(SICI)1098-1004(1996)7:1<52::AID-HUMU7>3.0.CO;2-R
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- Article