Autosomal Recessive Polycystic Kidney Disease
Last Posted: Jul 02, 2020
- Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.
Obeidova Lena et al. PloS one 2020 15(6) e0235071
- Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas Christie P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar
- Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Szabó Tamás et al. Pediatric nephrology (Berlin, Germany) 2018 Jun
- Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases.
Alzarka Bakri et al. Frontiers in pediatrics 2017 580
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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