Results 121 to 130 of about 93,897 (194)
Kidney stones are becoming increasingly common, affecting up to 10% of adults. A small percentage are of monogenic origin, such as Dent's disease (DD). DD is a syndrome that causes low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and nephrocalcinosis. It is X-linked, and most patients have mutations in the CLCN5 gene.
Diéguez, Lucía|| +7 more
openaire +1 more source
Clinical variation in Lowe syndrome: what and how?
Frontiers in Cell and Developmental BiologyLowe syndrome is an X-linked disorder caused by mutations of the OCRL gene which encodes the enzyme inositol polyphosphate-5-phosphatase OCRL (Ocrl1) and is expressed in almost all body cells.
Eileen D. Brewer
doaj +1 more source
Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay
BMC Medical GenomicsBackground The Dent disease 1 is a rarely inherited renal tubular disease caused by variants in the CLCN5 gene. Increasing evidence suggests that many intronic variants can affect the normal splicing of pre-mRNA by altering various splicing regulatory ...
Dan Qiao +4 more
doaj +1 more source
Clinical utility gene card for: Dent disease (Dent-1 and Dent-2) [PDF]
European Journal of Human Genetics, 2014 Ludwig, M. +2 more
openaire +3 more sources
Orphanet Journal of Rare DiseasesBackground Hypoglycaemia is the primary manifestation of all the hepatic types of glycogen storage disease (GSD). In 2008, Glycosade®, an extended-release waxy maize cornstarch, was reported as an alternative to uncooked cornstarch (UCCS) which could ...
DA Weinstein +17 more
doaj +1 more source
A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test. [PDF]
CEN Case Rep, 2022 Motoyoshi Y +4 more
europepmc +1 more source