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Harmonizing gene nomenclature and disease classification for ADSS1 myopathy
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Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
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Reimbursement status, access delays and prices of orphan drugs in France: a population-stratified analysis of indications approved between 2021 and 2024
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Paediatric palliative approach in the era of disease modifying therapies in spinal muscular atrophy — a comprehensive landscape of French specialist physicians’ perspectives
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