Publications:

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Jimd Reports

Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C

Publication Date: 2022-03

Variant appearance in text: PAH: Arg420Met

PubMed Link: 35281663

Variant Present in the following documents:

• Main text
• JMD2-63-146.pdf

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Plos One

Yubero, Dèlia D; Brandi, Núria N; Ormazabal, Aida A; Garcia-Cazorla, Àngels À; Pérez-Dueñas, Belén B; Campistol, Jaime J; Ribes, Antonia A; Palau, Francesc F; Artuch, Rafael R; Armstrong, Judith J; ,

Publication Date: 2016

Variant appearance in text: PAH: Arg420Met

PubMed Link: 27243974

Variant Present in the following documents:

• pone.0156359.s002.xlsx, sheet 1

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