Toxic Valine Byproduct Drives Brain Damage in Rare Mitochondrial Disease, Mouse Study Finds
A rare childhood metabolic disorder called ECHS1 deficiency has long puzzled researchers because its most damaging effects unfold in the ...
Tag: rare disease
Enzyme Replacement Therapy Proves Safe and Stable in Chinese Patients with Fabry Disease
A 52-week phase 3 trial across six Chinese centers found agalsidase alfa was generally well tolerated, kept kidney and cardiac ...
Doctors Stop Rare Genetic Bleeding Disorder With Endoscopic Sclerotherapy and Band Ligation
A first-of-its-kind case from Peking Union Medical College Hospital shows that combining endoscopic lauromacrogol sclerotherapy with band ligation can control ...
Shrinking Lung Syndrome in Lupus: A Systematic Review of 120 Cases Reveals Distinctive Patterns
A systematic review pooling 120 patients with shrinking lung syndrome in systemic lupus erythematosus reveals consistent clinical patterns, diagnostic clues, ...
When the Body Ignores Its Own Thyroid Hormones: Decoding RTHβ in Children
The biochemical signature that defines resistance to thyroid hormone beta—a simultaneous rise in free thyroxine and free triiodothyronine with a ...
National Study Reveals Survival and Causes of Death in Mitochondrial Disease
A nationwide English cohort study of 1,107 genetically confirmed patients shows that survival in primary mitochondrial disease is far better ...
Patient Voices Take Center Stage as Bronchiectasis Community Plans Landmark FDA Drug Development Meeting
The Bronchiectasis and NTM Association has announced an Externally-Led Patient-Focused Drug Development meeting for non-cystic fibrosis bronchiectasis, proposed for late ...
Automated CT Scans Give Doctors a New Window Into a Rare Cystic Lung Disease
A French pilot study shows automated quantitative CT analysis can objectively measure lung damage in pulmonary Langerhans cell histiocytosis, matching ...
Myeloma Drug Pomalidomide Halts Severe Nosebleeds in Inherited Vascular Disease
A Japanese case report describes how the myeloma drug pomalidomide rapidly relieved transfusion-dependent nosebleeds in a patient with hereditary hemorrhagic ...
A Father’s Two-Decade Journey Through Duchenne Muscular Dystrophy Reshapes What Research Means
A new Pediatric Research reflection by Alex Smith traces nearly twenty years of living alongside his son Harrison's Duchenne muscular ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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