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Screening for acid sphingomyelinase deficiency in patients with an interstitial lung disease
May 12, 2026
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Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
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Patient-reported clinical characteristics and healthcare utilization in Spinal Muscular Atrophy (SMA): a cross-sectional study from Iran
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Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families
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