PubMed Clinical Queries
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Results for Clinical Studies: Therapy/Broad
5 of 17 results sorted by: Most RecentSee all results in PubMed (17)
Genetics, X-Linked Inheritance.
2023 May 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. PMID: 32491315 Free Books & Documents.
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
CEN Case Rep. 2020. PMID: 32128695 Free PMC article.
The diagnosis of HPRT deficiency in the 21st century.
Nucleosides Nucleotides Nucleic Acids. 2008. PMID: 18600505
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
Eur J Pediatr. 2008. PMID: 17891542
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Metabolism. 2007. PMID: 17697859