Iron metabolism disease

This study looked at how people with PKAN, a rare genetic brain disorder, respond to a special vitamin metabolite. Researchers wanted to see if it is safe and if it changes any signs of the disease. 77 people aged 3 months to 89 years took part.

This study tested how well a special MRI scan called LiverMultiScan can measure liver fat, iron, and scarring. 61 adults with various liver diseases had up to 6 scans on different machines. The goal was to see if the results are consistent when repeated on the same scanner or on …

This study looked at whether people with hereditary hemochromatosis (a condition causing too much iron in the body) have higher rates of gum disease. Researchers examined 87 adults aged 35 to 64 with the C282Y gene mutation. They measured gum pocket depth and clinical attachment …

This study followed 100 adults with genetic hemochromatosis (a condition causing too much iron in the body) for 3 years to see how their bone health changed. Researchers measured bone density and checked for fractures and joint problems. The goal was to understand if iron overloa…

This study looked at how a single injection of erythropoietin, a hormone that boosts red blood cell production, changes levels of hepcidin — a key protein that controls iron in the body. Fourteen healthy men aged 18–30 took part. Researchers measured hepcidin in blood and urine t…

This study tested new MRI and MRE techniques that let children breathe normally during scans, instead of holding their breath. The goal was to measure liver fat and stiffness more comfortably and accurately in kids with fatty liver disease. 135 children aged 6-17 took part, and t…

This study looked at cells from 21 people with BPAN, a rare brain disease caused by a gene mutation. Researchers wanted to see if the cells have trouble handling stress, which might explain why brain cells die. No treatment was given; the goal was simply to learn more about the d…

This study looked at 111 people with cerebral amyloid angiopathy (CAA), a condition that causes bleeding in the brain. Researchers used MRI scans to check for iron deposits in the cerebellum, a part of the brain that controls balance and coordination. The goal was to learn where …

This study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…