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Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series.
Diagnostics (Basel)
December 2024
Department of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Background: Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the gene, resulting in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes. This study presents a case series of three Taiwanese patients diagnosed at a single medical center.
View Article and Find Full Text PDFLesch-Nyhan Syndrome with Neurological Symptoms and Nephrocalcinosis.
Indian J Pediatr
December 2024
Department of Nephrology, Batman Training and Research Hospital, Batman, Turkey.
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
medRxiv
December 2024
Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
Article Synopsis
- Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
- The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
- Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.
Nephrology (Carlton)
December 2024
Department of Clinical Pharmacy, School of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- - The incidence of genetic diseases linked to chronic kidney disease (CKD) has been on the rise, prompting a review of monogenic causes related to kidney stone disorders.
- - Identified monogenic conditions include primary hyperoxaluria, cystinuria, and Dent disease, all of which can lead to CKD and possibly progress to end-stage kidney disease (ESKD).
- - It's important to conduct genetic testing in children with kidney stones, as a significant number of these patients may develop CKD due to underlying genetic disorders.
Unleashing the Power of Induced Pluripotent stem Cells in in vitro Modelling of Lesch-Nyhan Disease.
Stem Cell Rev Rep
November 2024
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, via Aldo Moro 2, Siena, 53100, Italy.
Lesch-Nyhan disease (LND) is a monogenic rare neurodevelopmental disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyltransferase (HPRT), the key enzyme of the purines salvage pathway. Beyond its well-documented metabolic consequences, HPRT deficiency leads to a distinctive neurobehavioral syndrome characterized by motor disabilities, cognitive deficits, and self-injurious behavior. Although various cell and animal models have been developed to investigate LND pathology, none have adequately elucidated the underlying mechanisms of its neurological alterations.
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