Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B
Mariana Acuña(Pontificia Universidad Católica de Chile), Silvana Zanlungo(Pontificia Universidad Católica de Chile), Edward H. Schuchman(Icahn School of Medicine at Mount Sinai), Juan Francisco Miquel(Pontificia Universidad Católica de Chile), Rodrigo A. Gutiérrez(American Museum of Natural History), Peter Nüernberg(Chemical Genomics Centre), José Luis Santos(Universidad Pública de Navarra (UPNA)), Mauricio Moraga(University of Chile), Paulina Mabe(Clinica Santa Maria), Carol Moraga(University of O'Higgins), Xingxuan He(Icahn School of Medicine at Mount Sinai), Pablo Martínez(Indiana University – Purdue University Indianapolis), Bessie Hunter(Hospital Luis Calvo Mackenna), Maurício González(University of Chile)
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