Genetic diagnosis for adult patients at a genetic clinic
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006235
Abstract: Clinical utility of genetic testing has rapidly increased in the past decade to identify the definitive diagnosis, etiology, and specific management. The majority of patients receiving testing are children. There are several barriers for genetic… read more here.
Keywords: adult patients; diagnosis; genetic clinic; genetic diagnosis ... See more keywords
Paroxysmal cold hemoglobinuria: a difficult diagnosis in adult patients
Sign Up to like & getrecommendations! Published in 2017 at "Transfusion"
DOI: 10.1111/trf.13888
Abstract: Paroxysmal cold hemoglobinuria (PCH) is a rare form of autoimmune hemolytic anemia caused by a biphasic (Donath‐Landsteiner [DL]) immunoglobulin G autoantibody. Estimates of disease frequency after syphilis are lacking and the diagnostic yield of testing… read more here.
Keywords: diagnosis adult; difficult diagnosis; paroxysmal cold; hemoglobinuria difficult ... See more keywords