Related Experiment Videos
[Complete and partial deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]
1Department of Genetics, Institute for Developmental Research, Aichi Human Service Center.
Nihon Rinsho. Japanese Journal of Clinical Medicine
|March 13, 2003
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.
European journal of medical genetics·2023
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.
Molecular genetics and metabolism reports·2016
Novel mutation in HPRT1 causing a splicing error with multiple variations.
Nucleosides, nucleotides & nucleic acids·2016
Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences·2014
[Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report].
Rinsho shinkeigaku = Clinical neurology·2014
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Nucleosides, nucleotides & nucleic acids·2014
From free text to structured genomics: future-proofing cancer registries for precision oncology.
ESMO real world data and digital oncology·2026
A lipid metabolism-based gene signature defines diagnosis and molecular heterogeneity in diabetic nephropathy.
Iranian journal of basic medical sciences·2026