María Jesús
Sobrido Gómez
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Pitié-Salpêtrière Hospital
París, FranciaPublications in collaboration with researchers from Pitié-Salpêtrière Hospital (2)
2019
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Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2013
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082