ALG8 protein-truncating variants (PTVs) have previously been described in patients with
polycystic liver disease and in some cases cystic kidney disease. Given a lack of well …

Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are
characterized by the development of kidney cysts and progressive kidney function decline …

α-1, 2-mannosyltransferase (ALG9) germline variants are linked to autosomal dominant
polycystic kidney disease (ADPKD). Many individuals affected with ADPKD possess …

Background Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic
kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly …

Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting
from defects in glycan synthesis or processing. The number of subgroups and their …

Importance Most studies of autosomal dominant polycystic kidney disease (ADPKD)
genetics have used kidney specialty cohorts, focusing onPKD1andPKD2. These can lead to …

Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …

Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis,
between two groups of inherited disorders, autosomal dominant polycystic kidney diseases …

Background Estimating the prevalence of autosomal dominant polycystic kidney disease
(ADPKD) is challenging because of age-dependent penetrance and incomplete clinical …

Congenital disorders of glycosylation are a continuously expanding group of monogenic
disorders of glycoprotein and glycolipid glycan biosynthesis. These disorders mostly …