Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients

Abstract Background Lysosomal storage diseases (LSDs) is a large group of genetically heterogeneous inherited metabolic disorders that affect the functions of the lysosomes in various human tissues. Mucopolysaccharidosis type IIIA (MPSIIIA), Sanflippo syndrome A, is a rare autosomal recessive LSD ca...

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Bibliografski detalji

Glavni autori:	Ekram Fateen, Soha S. Nosier, Nahla N. Abdel Aziz, Amira M. Radwan, Eman E.A. Mohammed
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2025-08-01
Serija:	Orphanet Journal of Rare Diseases
Teme:	Sanfilippo syndrome type A SGSH gene Heparan-N-sulphatase Sulphamidase MPS IIIA Mucopolysaccharidosis IIIA
Online pristup:	https://doi.org/10.1186/s13023-025-03971-2
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