Results 31 to 40 of about 42,420 (251)

Autosomal recessive polycystic kidney disease

Radiopaedia.org, 2020
Bahman Rasuli
openaire   +2 more sources

Cardiac Abnormalities in Children with Autosomal Recessive Polycystic Kidney Disease [PDF]

Cardiorenal Medicine, 2019
<b><i>Background:</i></b> No previous study has defined the prevalence of cardiac geometric and mechanical function abnormalities through the analysis of advanced echocardiographic parameters in children with autosomal recessive polycystic kidney disease (ARPKD).
Marcello Chinali, Laura Lucchetti, Agnese Ricotta, Claudia Esposito, Carolina D’Anna, Gabriele Rinelli, Francesco Emma, Laura Massella   +7 more
openalex   +5 more sources

Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa [PDF]

Pediatric nephrology (Berlin, West)
The incidence of rare diseases is expected to be comparatively higher in the Middle East and North Africa (MENA) region than in other parts of the world, attributed to the high prevalence of consanguinity.
Elgebaly, A., Elgebaly, A., Salman, M. A., Salman, M. A., Soliman, N. A., Soliman, N. A.   +5 more
core   +2 more sources

Multimodal Magnetic Resonance Imaging Assessments of Kidney Disease Severity in Autosomal Recessive Polycystic Kidney Disease. [PDF]

Kidney Int Rep
MacAskill CJ, Kretzler ME, Parsons A, Gange V, Hach J, Larson S, Zhu Y, Perino J, Farr S, Markley M, Pritts N, Perera-Gonzalez M, Clark HA, Kuehn B, Liu KC, Yu X, Ma D, Chen Y, Flask CA, Dell KM.   +19 more
europepmc   +2 more sources

Evaluation of galectin-3 and intestinal fatty acid binding protein as serum biomarkers in autosomal recessive polycystic kidney disease. [PDF]

J Nephrol, 2023
Fleischer LT, Ballester L, Dutt M, Howarth K, Poznick L, Darge K, Furth SL, Hartung EA.   +7 more
europepmc   +2 more sources

Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease. [PDF]

J Physiol
Abstract figure legend Our results demonstrate a diastolic dysfunction in animals with severe kidney disease. Moreover, chronic kidney disease (CKD)‐induced heart fibrosis and hypertrophy are associated with a dysregulation of cardiokine signalling in autosomal recessive polycystic kidney disease (ARPKD) animals. Created using BioRender.com.
Gayrard N, Plawecki M, Lauret C, Fila M, Sicard P, Duranton F, Boukhaled JH, Cortijo-Tejero I, Lotierzo M, Jover B, Cristol JP, Raynaud F.   +11 more
europepmc   +2 more sources

Perspectives on Drug Development in Autosomal Recessive Polycystic Kidney Disease.

Clin J Am Soc Nephrol, 2022
Liebau MC, Hartung EA, Perrone RD.
europepmc   +2 more sources

A case of 17q12 deletion syndrome that presented antenatally with markedly enlarged kidneys and clinically mimicked autosomal recessive polycystic kidney disease. [PDF]

CEN Case Rep, 2021
Nakamura M, Kanda S, Kajiho Y, Morisada N, Iijima K, Harita Y.   +5 more
europepmc   +2 more sources

Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease [PDF]

Movement Disorders, 2023, 38 (9), pp.1756-1757, 2023
Liu et al. recently reported that biallelic mutations in DAGLB are responsible for autosomal recessive early-onset Parkinson's disease. They identified six patients carrying DAGLB mutations, all of Chinese origin and presenting with typical Parkinson disease.
arxiv   +1 more source

Autosomal recessive polycystic kidney disease - antenatal

, 2020
Ammar Haouimi
openalex   +2 more sources