Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations

Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive, progressive, multisystem hereditary lysosomal storage disease (LSD), which is characterized by the gradual accumulation of dermatan sulphate (DS), heparan sulphate (HS), and glycosaminoglycans (GAGs) in all organs and tissues due to the...

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Bibliographic Details
Main Authors: Marika Venezia, Martina Vinci, Paolo Colomba, Carmela Zizzo, Giovanni Duro, Marta Moschetti
Format: Article
Language:English
Published: MDPI AG 2025-05-01
Series:Biomedicines
Subjects:
differential diagnosis
mucopolysaccharidosis
α-mannosidosis
epigenetics
artificial intelligence (AI)
Online Access:https://www.mdpi.com/2227-9059/13/5/1199
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