Rare disorders of penile erection.
Sign Up to like & getrecommendations! Published in 2020 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2019.11.013
Abstract: This literature review presents two unusual and mystifying disorders of penile erection: painful nocturnal erections, alternatively termed sleep-related painful erections, and idiopathic stuttering priapism, a variant of recurrent ischemic priapism in which no cause is… read more here.
Keywords: penile erection; rare disorders; disorders penile;
This Month in Pediatric Urology.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Urology"
DOI: 10.1097/ju.0000000000001204
Abstract: In 1983 through advocacy from the National Organization for Rare Disorders and others, including the actor Jack Klugman and his medical television series, Quincy, M.E., the Orphan Drug Act was passed into law in the… read more here.
Keywords: pediatric urology; urology month; month pediatric; rare disorders ... See more keywords
Drugs for rare disorders
Sign Up to like & getrecommendations! Published in 2017 at "British Journal of Clinical Pharmacology"
DOI: 10.1111/bcp.13331
Abstract: Estimates of the frequencies of rare disorders vary from country to country; the global average defined prevalence is 40 per 100 000 (0.04%). Some occur in only one or a few patients. read more here.
Keywords: drugs rare; pharmacology; rare disorders;
Genetics of Kidney Disease: The Unexpected Role of Rare Disorders.
Sign Up to like & getrecommendations! Published in 2022 at "Annual review of medicine"
DOI: 10.1146/annurev-med-042921-101813
Abstract: Hundreds of different genetic causes of chronic kidney disease are now recognized, and while individually rare, taken together they are significant contributors to both adult and pediatric diseases. Traditional genetics approaches relied heavily on the… read more here.
Keywords: rare disorders; kidney disease; medicine; genetics kidney ... See more keywords
A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2023.1107930
Abstract: Rare genetic disorders represent some of the most severe and life-limiting conditions that constitute a considerable burden on global healthcare systems and societies. Most individuals affected by rare disorders remain undiagnosed, highlighting the unmet need… read more here.
Keywords: disease; disease genes; phosphatase catalytic; rare disorders ... See more keywords
Review of Applications of Near-Infrared Spectroscopy in Two Rare Disorders with Executive and Neurological Dysfunction: UCD and PKU
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13101690
Abstract: Studying rare diseases, particularly those with neurological dysfunction, is a challenge to researchers and healthcare professionals due to their complexity and small population with geographical dispersion. Universal and standardized biomarkers generated by tools such as… read more here.
Keywords: two rare; spectroscopy; near infrared; neurological dysfunction ... See more keywords