Showing 1–9 of 9 results
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Research |
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
- Rosa Navarrete
- , Fátima Leal
- , Ana I. Vega
- , Ana Morais-López
- , María Teresa Garcia-Silva
- , Elena Martín-Hernández
- , Pilar Quijada-Fraile
- , Ana Bergua
- , Inmaculada Vives
- , Inmaculada García-Jiménez
- , Raquel Yahyaoui
- , Consuelo Pedrón-Giner
- , Amaya Belanger-Quintana
- , Sinziana Stanescu
- , Elvira Cañedo
- , Oscar García-Campos
- , María Bueno-Delgado
- , Carmen Delgado-Pecellín
- , Isidro Vitoria
- , María Dolores Rausell
- , Elena Balmaseda
- , Mari Luz Couce
- , Lourdes R. Desviat
- , Begoña Merinero
- , Pilar Rodríguez-Pombo
- , Magdalena Ugarte
- , Celia Pérez-Cerdá
- & Belén Pérez
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Amendments and Corrections |
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
- Curtis R Coughlin
- , Michael A Swanson
- , Kathryn Kronquist
- , Cécile Acquaviva
- , Tim Hutchin
- , Pilar Rodríguez-Pombo
- , Marja-Leena Väisänen
- , Elaine Spector
- , Geralyn Creadon-Swindell
- , Ana M Brás-Goldberg
- , Elisa Rahikkala
- , Jukka S Moilanen
- , Vincent Mahieu
- , Gert Matthijs
- , Irene Bravo-Alonso
- , Celia Pérez-Cerdá
- , Magdalena Ugarte
- , Christine Vianey-Saban
- , Gunter H Scharer
- & Johan L K Van Hove
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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
- Curtis R. Coughlin II
- , Michael A. Swanson
- , Kathryn Kronquist
- , Cécile Acquaviva
- , Tim Hutchin
- , Pilar Rodríguez-Pombo
- , Marja-Leena Väisänen
- , Elaine Spector
- , Geralyn Creadon-Swindell
- , Ana M. Brás-Goldberg
- , Elisa Rahikkala
- , Jukka S. Moilanen
- , Vincent Mahieu
- , Gert Matthijs
- , Irene Bravo-Alonso
- , Celia Pérez-Cerdá
- , Magdalena Ugarte
- , Christine Vianey-Saban
- , Gunter H. Scharer
- & Johan L.K. Van Hove
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Research |
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Research |
Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct
- Christiane Busquets
- , Begoña Merinero
- , Ernst Christensen
- , Josep Lluís Gelpí
- , Jaume Campistol
- , Mercè Pineda
- , Emilio Fernández-Alvarez
- , José M Prats
- , Ana Sans
- , Rosa Arteaga
- , Milagros Martí
- , Jaime Campos
- , Mercedes Martínez-Pardo
- , Antonio Martínez-Bermejo
- , Julián Ó Vaquerizo
- , Modesto Orozco
- , Magdalena Ugarte
- , M Josep Coll
- & Antonia Ribes
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Research |
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Research | | Open
