Fernanda Sperb-Ludwig

No ORCID on file · 2 papers in corpus · active 2023-2026

Study types

  • case-report 1
  • other 1
case-report 2026
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency
Clinical genetics ·doi:10.1111/cge.70165

The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with coars…

other 2023
In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
Genetics and molecular biology ·doi:10.1590/1678-4685-GMB-2023-0117

Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in GlcNAc-1-phosphotransferase. This enzyme adds mannose 6-phosphate residues to lysosom…