Genetic Disorders

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Pop Quiz
Pop Quiz
12/11/2024
A recent meta-analysis examines the incidence of hepatocellular carcinoma in patients with acute hepatic porphyria, identifying higher risks in certain subgroups. Test your knowledge of these findings with...
12/11/2024
Pop Quiz
Pop Quiz
11/26/2024
Miranda Manier, BA
When evaluating a patient for possible Danon disease, several other diagnoses should be considered. Do you think you know the similar diagnoses to Danon disease? Take the quiz to test your knowledge!
11/26/2024
Case Report Insights
Case Report Insights
11/18/2024

Cole R. Fiedler, BS

Cole R. Fiedler, BS
In this Case Report Insights, Cole Fiedler, BS, speaks about his team’s study, "An Unexpected Outcome in an Adolescent With Juvenile Ankylosing Spondylitis. Cole Fiedler discusses what led to the diagnosis...
11/18/2024

Interactive Features

Pop Quiz
Pop Quiz
12/11/2024
A recent meta-analysis examines the incidence of hepatocellular carcinoma in patients with acute hepatic porphyria, identifying higher risks in certain subgroups. Test your knowledge of these findings with...
12/11/2024
Pop Quiz
Pop Quiz
11/26/2024
Miranda Manier, BA
When evaluating a patient for possible Danon disease, several other diagnoses should be considered. Do you think you know the similar diagnoses to Danon disease? Take the quiz to test your knowledge!
11/26/2024
Pop Quiz
Pop Quiz
11/13/2024
Danon disease is a rare genetic disorder with three distinct characteristics that affect boys more severely than girls. Can you correctly identify the three main features of Danon disease? Take the quiz to...
11/13/2024
Pop Quiz
Pop Quiz
09/18/2024
Acute hepatic porphyria attacks are associated with several painful symptoms. Think you know the most common one? Take the quiz to find out!
09/18/2024
Pop quiz
Pop quiz
08/09/2024
Nephropathic cystinosis is a rare disease that may lead to the development of other diseases and complications in patients. Do you know some of the complications that can develop in patients due to...
08/09/2024

Clinical Insights

Case Report Insights
Case Report Insights
11/18/2024

Cole R. Fiedler, BS

Cole R. Fiedler, BS
In this Case Report Insights, Cole Fiedler, BS, speaks about his team’s study, "An Unexpected Outcome in an Adolescent With Juvenile Ankylosing Spondylitis. Cole Fiedler discusses what led to the diagnosis...
11/18/2024
Video
Video
12/06/2023
James Matera, DO
In this video, James Matera, DO, discusses a case presentation of a 12-year-old patient with nephropathic cystinosis, including the diagnosis, management, follow-up, and ways to coordinate with the care...
12/06/2023
Expert Q&A
Expert Q&A
05/03/2022
New research investigated the nervous system cell types in which putative migraine-associated genes are expressed. Lead author William Renthal, MD, PhD, answers our questions about this research.
05/03/2022
genetics
genetics
01/27/2020
Mingyu Liang, MB, PhD, answers our questions about his research into the dark genome’s function in hypertension.
01/27/2020
Adrenal Disorders
Adrenal Disorders
01/22/2020
Dr Speiser answers our questions about the Endocrine Society’s 2018 clinical practice guideline for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
01/22/2020