A Hidden Cause of Dangerously High Fat in Young Adults
Doctors often see young people with extremely high levels of fat (triglycerides) in their blood and assume it's from diet or lifestyle. But this case report …
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Simple Diet Changes May Help Treat Rare Copper Deficiency
Scientists discovered that a rare genetic disorder affecting how the body absorbs copper can be helped by changing diet. Using tiny worms as a model, …
Read MoreRare Blood Clotting Problem Found in Stomach Cancer Patient
Doctors reported a case of a middle-aged woman who developed a serious blood condition called thrombotic microangiopathy (TMA) about 15 months after surgery to …
Read MoreWhy Some Bleeding Disorders Don't Fully Respond to Vitamin K
Researchers discovered why some people with a rare bleeding disorder don't fully benefit from vitamin K treatment. By studying a patient with two genetic …
Read MoreMystery Bleeding Disorder: When Vitamin K Deficiency Appears Without a Clear Cause
Doctors in Japan discovered something unusual: two adults developed serious bleeding problems caused by vitamin K deficiency, but they couldn't figure out why. …
Read MoreNew Drug Shows Promise in Slowing Rare Brain Disease MSA-C
Scientists discovered that a new experimental drug called INI-0602 may help slow down multiple system atrophy-cerebellar type (MSA-C), a rare and serious brain …
Read MoreNew Test Helps Doctors Find a Rare Blood Cell Disease
Doctors have created a new scoring system called the FIP-Score to help identify patients who might have a rare condition called FIP1L1-PDGFRA-associated …
Read MoreSome Fibromyalgia Patients May Have a Different Bone Disease
Researchers studied 713 patients diagnosed with fibromyalgia to see if some might actually have a different condition called hypophosphatasia, a rare bone …
Read MoreRare Genetic Disorder Causes Seizures and Muscle Problems in Newborn
Doctors discovered a newborn baby with a rare genetic condition called Pyridoxine-Dependent Epilepsy (PDE) that caused seizures, muscle breakdown, and …
Read MoreHow COVID-19 Can Affect a Child's Pituitary Gland
Doctors in China reported a rare case of a 4-year-old boy who developed a serious condition affecting his pituitary gland—a small but important part of the …
Read MoreTeen's Vision Saved by Quick Blood-Cleaning Treatment
A rare genetic condition called methylmalonic acidemia can damage the eyes and cause vision loss. In this case, an 18-year-old girl experienced sudden blurry …
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