Gaucher disease (GD) and Acid Sphingomyelinase Deficiency (ASMD) are autosomal recessive lysosomal storage disorders (LSDs) caused by biallelic pathogenic variants in GBA1 and SMPD1, respectively. The resulting enzymatic defects lead to progressive accumulation of undegraded sphingolipids within macrophages and parenchymal cells, producing chronic, multisystemic, and often irreversible organ damage.
Early Diagnosis of Gaucher Disease and ASMD in Sardinia: the “ICHNOS” Project
Mulas, OlgaCo-primo
;Costa, Alessandro
Co-primo
;Caocci, GiovanniUltimo
2026-01-01
Abstract
Gaucher disease (GD) and Acid Sphingomyelinase Deficiency (ASMD) are autosomal recessive lysosomal storage disorders (LSDs) caused by biallelic pathogenic variants in GBA1 and SMPD1, respectively. The resulting enzymatic defects lead to progressive accumulation of undegraded sphingolipids within macrophages and parenchymal cells, producing chronic, multisystemic, and often irreversible organ damage.
File in questo prodotto:
| File | Dimensione | Formato | |
|---|---|---|---|
|
mjhid-18-1-e2026016.pdf
accesso aperto
Tipologia:
versione editoriale (VoR)
Dimensione
473.22 kB
Formato
Adobe PDF
|
473.22 kB | Adobe PDF | Visualizza/Apri |
I metadati presenti in IRIS UNICA sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono protetti da diritto d'autore, salvo diversa indicazione.
