Genetic Disorders
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Featured
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
09/18/2024
Cole R. Fiedler, BS1 • Lana Soylu, MD2
Cole R. Fiedler, BS1 • Lana Soylu, MD...
A 13-year-old boy presented to his pediatrician’s office with a 1-day history of left hip pain. The patient reported that he felt a sharp pain in his anterior left hip while running, causing him to limp. He...
09/18/2024
09/06/2024
Catherine Lim, BKin1 • Alexander K. C. Leung, MD2,3 • Kin Fon Leong, MD4 • Joseph M. Lam, MD5
Catherine Lim, BKin1 • Alexander K. C...
A 3-year-old boy presented to an outpatient clinic with a history of painless edema involving both lower extremities since birth.
09/06/2024
Interactive Features
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
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
06/10/2024
Does every patient with the genetic mutation for acute hepatic porphyria experience symptoms? Take this pop quiz to find out!
06/10/2024
05/08/2024
Have you treated patients with acute hepatic porphyria in your practice? Let us know your experience with this rare genetic disorder by taking the poll!
05/08/2024
04/30/2024
Do you know which patient population is most likely to have an acute hepatic porphyrias attack? Take the quiz and find out!
04/30/2024
Clinical Insights
05/24/2024
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...
05/24/2024
12/06/2023
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
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
01/27/2020
Mingyu Liang, MB, PhD, answers our questions about his research into the dark genome’s function in hypertension.
01/27/2020
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
