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Fibrosis Pulmonar Ideopatica (FPI)
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Hipercolesterolemia familiar Homocigota
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Lipofucinosis (CLN2)
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Hiperfenilalaninemia (PKU)
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Distrofia Muscular
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Atrofia Muscular espinal (SMA)
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Fibrosis Quística
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Cistinosis
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FOP
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Angioedema Hereditario
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Síndrome de Smith-Lemli-Opitz (SLO)
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