Results 101 to 110 of about 6,536 (205)

Autosomal recessive polycystic kidney disease diagnosed in fetus

Indian Journal of Urology, 2007
Joseph Thomas, A P Manjunath, Lavanya Rai, Ranjini Kudva   +3 more
doaj   +1 more source

A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease. [PDF]

J Clin Med, 2023
Li H, Wang C, Che R, Zheng B, Zhou W, Huang S, Jia Z, Zhang A, Zhao F, Ding G.   +9 more
europepmc   +1 more source

Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy

Case Reports in Clinical Practice, 2017
Joubert syndrome and related disorders (JSRDs) are a group of anomalies characterized by hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and apnea and hyperpnea in infancy with multiorgan involvement in which the ...
Fatemeh Farahmand, Hojjatollah Jafari-Fesharaki, Rouhullah Edalatkhah, Mohammad Eshagh Rozeh   +3 more
doaj  

Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease. [PDF]

Pediatr Rep, 2022
Acharya R, Upadhyay K.
europepmc   +1 more source

Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease. [PDF]

Kidney Int Rep, 2022
Ajiri R, Burgmaier K, Akinci N, Broekaert I, Büscher A, Dursun I, Duzova A, Eid LA, Fila M, Gessner M, Gokce I, Massella L, Mastrangelo A, Miklaszewska M, Prikhodina L, Ranchin B, Ranguelov N, Rus R, Sever L, Thumfart J, Weber LT, Wühl E, Yilmaz A, Dötsch J, Schaefer F, Liebau MC.   +25 more
europepmc   +1 more source

SP875MOLECULAR GENETIC ANALYSIS IN FAMILIES WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE [PDF]

, 2015
Lena Obeidová, Jitka Štekrová, Veronika Elišáková, Tomáš Seeman, Jana Reiterová, Vladimı́r Tesař   +5 more
openalex   +1 more source

Congenital Hepatic Fibrosis and/or Autosomal Recessive Polycystic Kidney Disease: A Single-center Experience. [PDF]

Pediatr Gastroenterol Hepatol Nutr
Altay D, Yel S, Dursun İ, Arslan D.
europepmc   +1 more source

Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease. [PDF]

BMC Nephrol, 2023
Mekahli D, Liebau MC, Cadnapaphornchai MA, Goldstein SL, Greenbaum LA, Litwin M, Seeman T, Schaefer F, Guay-Woodford LM.   +8 more
europepmc   +1 more source

Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension. [PDF]

Pediatr Nephrol, 2023
Seeman T, Bláhová K, Fencl F, Klaus R, Lange-Sperandio B, Hrčková G, Podracká Ĺ.   +6 more
europepmc   +1 more source

Functional activity of epidermal growth factor receptors in autosomal recessive polycystic kidney disease [PDF]

, 1998
William E. Sweeney, Ellis D. Avner
openalex   +1 more source