Results 121 to 130 of about 30,053 (265)

Autosomal dominant polycystic kidney disease

, 2021
Melissa A. Cadnapaphornchai, Djalila Mekahli   +1 more
openaire   +2 more sources

Autosomal dominant polycystic kidney disease in children [PDF]

Current Opinion in Pediatrics, 2015
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease, affecting one in 500 individuals. The cardinal manifestation of ADPKD is progressive cystic dilatation of renal tubules with kidney enlargement and progression to end-stage renal disease in approximately half of cases by 60 years of age.
openaire   +3 more sources

AUTOSOMAL – DOMINANT POLYCYSTIC KIDNEY DISEASE – A GLEAM OF HOPE?

Український Журнал Нефрології та Діалізу, 2014
The review contains information about modern conception ofautosomal–dominant polycystic kidney disease, its genetics, epidemiology, pathogenesis, course, clinical presentation and the results of recent clinical ...
V.V. Doretskyi, Y.V. Doretskyi
doaj   +1 more source

A polycystin-centric view of cyst formation and disease: the polycystins revisited [PDF]

, 2015
It is 20 years since the identification of PKD1, the major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2. These major breakthroughs have led in turn to a period of intense investigation into
Harris, P.C., Ong, A.C.M.
core   +2 more sources

Defective glycolysis and the use of 2-deoxy-d-glucose in polycystic kidney disease: from animal models to humans [PDF]

, 2017
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited renal disease characterized by bilateral renal cyst formation. ADPKD is one of the most common rare disorders, accounting for ~10% of all patients with end-stage renal disease (ESRD ...
Boletta, Alessandra, Magistroni, Riccardo   +1 more
core   +1 more source

1630 THE NATURAL HISTORY OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN CHILDREN [PDF]

, 1985
Aileen B. Sedman, Michael L. Johnson, Robert C. Kelsch, Nancy Butler, Patricia A. Gabow   +4 more
openalex   +1 more source

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study

Clinical and Translational Medicine, Volume 15, Issue 7, July 2025.
Soojin Hwang, Go Hun Seo, In Hee Choi, Seung‐Woo Ryue, Ji Young Oh, Yoo‐Mi Kim, Baik‐Lin Eun, Jung Hye Byeon, Eugu Kang, Myungshin Kim, Hoon Seok Kim, Soyoung Lee, Han Wool Kim, Dohyung Kim, Rin Khang, Jihye Kim, Dongseok Moon, Seokhui Jang, Yongjun Song, Gu‐Hwan Kim, Kyoung Bo Kim, Jun Hong Park, Seo Yeon Yang, Yoo Kyoung Choi, Su Min Ji, Oc‐Hee Kim, Mi‐Hyun Park, Hyun‐Young Park, Beom Hee Lee   +28 more
wiley   +1 more source

Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1. [PDF]

, 1990
Sushil Kumar, William J. Kimberling, Patricia A. Gabow, Yin Yao Shugart, Sandra Pieke-Dahl   +4 more
openalex   +1 more source

CLINICAL CASE OF AUTOSOMAL DOMINANT POLYCYSTOSIS OF THE KIDNEY IN A CHILD WITH CONNECTIVE TISSUE DYPLASIA

Мать и дитя в Кузбассе, 2022
The relevance of the problem of autosomal dominant polycystic kidney disease in childhood is due to age-related features of the formation of renal cysts and clinical manifestations, the frequent development of arterial hypertension syndrome and ...
Андрей Васильевич Налетов, Любовь Феликсовна Чалая, Оксана Николаевна Москалюк, Мария Александровна Мацынина   +3 more
doaj  

Calcified Renal Stones and Cyst Calcifications in Autosomal Dominant Polycystic Kidney Disease: Clinical and CT Study in 84 Patients [PDF]

, 1992

openalex   +1 more source