Novel IDUA variant confirmed in MPS I as embryo screening yields healthy child
A novel IDUA variant, c.1379T>C (p.Leu460Pro), has been linked to MPS I for the first time, and preimplantation genetic testing ...
Tag: lysosomal storage disorder
Rare LAMP2 Variants Behind Severe Heart Disease in Two Young Women Misdiagnosed as Amyloidosis
A case report describes two Chinese women with severe Danon disease initially suspected of cardiac amyloidosis, diagnosed through biopsy and ...
Hidden Sugar Switch Sabotages a Key Enzyme in Attenuated MPS I
Scientists have long known that mucopolysaccharidosis type I, or MPS I, arises when a single lysosomal enzyme called α-ʟ-iduronidase (IDUA) ...
Astrocyte model of Batten disease reveals mitochondrial and metabolic defects
In a development that could reshape how scientists understand and ultimately treat one of the most devastating childhood neurodegenerative conditions, ...
Echocardiographic changes and vascular dysfunction in male and female Fabry patients
Fabry disease has long been recognized as one of medicine's most insidious inherited disorders, a rare X-linked lysosomal storage condition ...
Fabry Disease Linked to Giant Coronary Aneurysms in a Seven-Month-Old Infant
A seven-month-old boy with three weeks of unexplained fever and enormous coronary artery aneurysms has prompted physicians to consider an ...
Multi-omics study identifies new drivers of organ damage in Fabry disease
A new review is reframing Fabry disease as far more than a disorder caused by the buildup of a single ...
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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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