Publications:

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

International Journal Of Neonatal Screening

Kubaski, Francyne F; Burlina, Alberto A; Polo, Giulia G; Pereira, Danilo D; Herbst, Zackary M ZM; Silva, Camilo C; Trapp, Franciele B FB; Michelin-Tirelli, Kristiane K; Lopes, Franciele F FF; Burin, Maira G MG; Brusius-Facchin, Ana Carolina AC; Netto, Alice B O ABO; Faqueti, Larissa L; Iop, Gabrielle D GD; Poletto, Edina E; Giugliani, Roberto R

Publication Date: 2022-06-28

Variant appearance in text: NPC1: S1178G

PubMed Link: 35892469

Variant Present in the following documents:

• IJNS-08-00039.pdf

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Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Genetics Research

Rodríguez-Quiroga, Sergio Alejandro SA; Cordoba, Marta M; González-Morón, Dolores D; Medina, Nancy N; Vega, Patricia P; Dusefante, Cecilia Vazquez CV; Arakaki, Tomoko T; Garretto, Nélida Susana NS; Kauffman, Marcelo Andres MA

Publication Date: 2015

Variant appearance in text: NPC1: Ser1178Gly

PubMed Link: 25989649

Variant Present in the following documents:

• Main text

View BVdb publication page