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Published on: November 20, 2014
Improved diagnostic procedures in attenuated mucopolysaccharidosis
1Department of Inherited Metabloic Disorders, Birmingham Children's Hospital, NHS Foundation Trust, Birmingham, UK.
Summary
General physicians and rheumatologists should suspect mucopolysaccharidosis in adults with multi-organ symptoms. Early diagnosis and treatment of these rare diseases are crucial for preventing irreversible damage and improving patient outcomes.
Area of Science:
- Rare diseases
- Genetics
- Internal Medicine
Background:
- Mucopolysaccharidoses (MPS) are a group of rare, debilitating genetic disorders.
- These conditions often present with multi-organ symptoms in adults.
- Delayed diagnosis can lead to irreversible complications.
