Results 121 to 130 of about 2,428 (197)

Hepatıc phenotype and complicatıons in patients with ARPKD – data from the International ARPKD Registry Study ARegPKD

, 2022
openaire   +1 more source

Pierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: a case report. [PDF]

CEN Case Rep
Yamamura-Miyazaki N, Michigami T, Okamoto N, Iida T, Yanagi K, Kaname T, Fukuda S, Baba M, Fujiwara K, Kubota T.   +9 more
europepmc   +1 more source

Atypical Liver Ultrasound Image in a Boy with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and New PKD1 Variant-A Case Report. [PDF]

Genes (Basel)
Turczyn A, Krzemień G, Nguyen D.
europepmc   +1 more source

Qualitative Analysis and Comparison of Externally Led Patient-Focused Drug Development Concepts for Autosomal Recessive Polycystic Kidney Disease Against SONG Initiatives. [PDF]

Kidney Med
Soyfer B, Fedeles S, Ruyle W, Hoover E, Liebau MC, Hartung EA, Dell KM, Guay-Woodford LM, Perrone RD, Oberdhan D.   +9 more
europepmc   +1 more source

Determinants of left ventricular mass in children with autosomal recessive polycystic kidney disease. [PDF]

J Nephrol
Lin M, Rubin J, Palermo RA, Zee J, Hartung EA.   +4 more
europepmc   +1 more source

Health-related quality of life, mental health and caregiver burden in children with autosomal recessive polycystic kidney disease. [PDF]

Pediatr Nephrol
Gimpel C, Schaefer S, Schaefer F.
europepmc   +1 more source

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. [PDF]

Hum Genomics
Frank MSB, Bennett MK, Ha TT, Moore L, Arts P, Byrne AB, Babic M, Arriola-Martinez L, Toubia J, Brautigan PJ, Feng J, Schwarz Q, Thomas PQ, Piltz SG, White MA, Moghimi A, Strachan K, Kwan E, Springer A, Lewit-Mendes M, Dearman J, Davis T, Kevin L, McCarthy HJ, Liebelt J, Krzesinski E, Regan M, Verma K, McGillivray G, Jayasinghe K, Jackson MR, Barnett CP, Scott HS.   +32 more
europepmc   +1 more source

Genetic Disorders Detectable by Fetal MRI: A Review. [PDF]

Diagnostics (Basel)
Wong KC, Chow TH, Cheung C, Chan JPK, Lee JCY, Kan EYL, Chu WCW.   +6 more
europepmc   +1 more source

Prenatal Diagnosis and Postnatal Outcomes of Fetal ADPKD: A Single-Center Retrospective Cohort Study. [PDF]

Medicina (Kaunas)
Kim S, Yoon JH, Jung YJ, Kwon H, Lee J, Kwon JY, Kim YH.   +6 more
europepmc   +1 more source

Kidney organoids demonstrate that PTH1R drives a cystogenic cAMP-pPKA-pCREB axis in developmental polycystic kidney disease. [PDF]

Am J Physiol Renal Physiol
Afrin H, Robichaud JH, Qamar U, Harris PC, Gupta N.   +4 more
europepmc   +1 more source