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The global refsum disease market size was valued at USD 1.23 billion in 2024 and is expected to reach USD 1.87 billion by 2032, at a CAGR of 5.40% during the forecast period
The market growth is largely fueled by the increasing awareness and diagnosis rates of refsum disease, coupled with advancements in genetic testing and molecular diagnostics that enable early and accurate detection
Furthermore, rising research and development activities focusing on novel therapies, along with supportive government initiatives for rare disease management, are accelerating the adoption of effective treatment options for refsum disease, thereby significantly boosting the market’s growth


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