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  • ¡®Treatment access improved for Lysosomal Storage Diseases'
  • by Son, Hyung-Min | translator Kang, Shin-Kook | Jun 20, 2024 05:48am
"Early treatment is important in treating rare diseases"
New drugs for Fabry disease, Gaucher disease, Pompe disease, etc. have been introduced...but patients are left on a ¡®diagnostic odyssey¡¯
Newborn screening will be reimbursed starting this year...allowing lysosomal abnormalities to be identified
"The accessible enzyme replacement therapy should be started early on to prevent symptoms"
 ¡ã Dr. Jong-Hee Chae, professor of Clinical Genomic Medicine at Seoul National University Hospital
"Lysosomal storage diseases show various symptoms throughout the body, making it difficult to diagnose the disease based on clinical manifestation alone. Therefore, it is important to diagnose it early and prevent the progression of symptoms with enzyme replacement therapy."

On September 19, Sanofi held a press conference at the Lotte Hotel in Jung-gu, Seoul, to celebrate the reimbursement expansion of newborn screening tests for lysosomal storage disease, a rare inherited disorder. Experts at the conference emphasized the importance of early detection of lysosomal storage diseases.

Lysosomal storage diseases (LSD) are genetically caused deficiencies in certain enzymes that lead to metabolic abnormalities. Lys
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