Found: 20
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Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 360, doi. 10.1007/s00439-002-0798-z
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- Publication type:
- Article
From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 11, p. 2035, doi. 10.1007/s00467-015-3308-y
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- Publication type:
- Article
Acute kidney injury in two children caused by renal hypouricaemia type 2.
- Published in:
- 2012
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- Publication type:
- Report
Exome array analysis of adverse reactions to fluoropyrimidine-based therapy for gastrointestinal cancer.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0188911
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- Publication type:
- Article
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
- Published in:
- 2018
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- Publication type:
- journal article
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 145
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- Publication type:
- Article
Rejuvenation of RBCs: validation of a manufacturing method suitable for clinical use.
- Published in:
- 2019
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- Publication type:
- journal article
Dihydropyrimidine dehydrogenase gene variants for predicting grade 4-5 fluoropyrimidine-induced toxicity: FUSAFE individual patient data meta-analysis.
- Published in:
- British Journal of Cancer, 2024, v. 130, n. 5, p. 808, doi. 10.1038/s41416-023-02517-2
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- Publication type:
- Article
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
- Published in:
- Nature Genetics, 2008, v. 40, n. 4, p. 437, doi. 10.1038/ng.106
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- Publication type:
- Article
Clinical implementation of pre-treatment DPYD genotyping in capecitabine-treated metastatic breast cancer patients.
- Published in:
- Breast Cancer Research & Treatment, 2019, v. 175, n. 2, p. 511, doi. 10.1007/s10549-019-05144-9
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- Publication type:
- Article
Pyrimidine 5′ Nucleotidase Deficiency.
- Published in:
- British Journal of Haematology, 2003, v. 120, n. 3, p. 375, doi. 10.1046/j.1365-2141.2003.03980.x
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- Publication type:
- Article
Thiopurines in Inflammatory Bowel Disease: New Findings and Perspectives.
- Published in:
- Journal of Crohn's & Colitis, 2018, v. 12, n. 5, p. 610, doi. 10.1093/ecco-jcc/jjx181
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- Publication type:
- Article
The diagnosis of inherited metabolic diseases by microarray gene expression profiling.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 34, doi. 10.1186/1750-1172-5-34
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- Publication type:
- Article
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
- Published in:
- Kidney International, 2005, v. 68, n. 4, p. 1472, doi. 10.1111/j.1523-1755.2005.00560.x
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- Publication type:
- Article
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation.
- Published in:
- Kidney International, 2003, v. 63, n. 5, p. 1645, doi. 10.1046/j.1523-1755.2003.00903.x
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- Publication type:
- Article
Thiopurine treatment in inflammatory bowel disease.
- Published in:
- 2007
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- Publication type:
- letter
Polymorphisms in Folate, Pyrimidine, and Purine Metabolism Are Associated with Efficacy and Toxicity of Methotrexate in Psoriasis.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 8, p. 1860, doi. 10.1038/sj.jid.5700808
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- Publication type:
- Article
The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients.
- Published in:
- Cancer Chemotherapy & Pharmacology, 2010, v. 65, n. 2, p. 403, doi. 10.1007/s00280-009-1147-x
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- Publication type:
- Article
Modern diagnostic approach to hereditary xanthinuria.
- Published in:
- Urolithiasis, 2015, v. 43, n. 1, p. 61, doi. 10.1007/s00240-014-0734-4
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- Publication type:
- Article
Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects.
- Published in:
- Journal of Hematology & Oncology, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-8722-6-24
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- Publication type:
- Article