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Belanger Quintana, Amaya

Medicina y Especialidades Médicas / Universidad de Alcalá

Publications

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

  • Gallego, D.
  • Leal, F.
  • Gámez, A.
  • Castro, M.
  • Navarrete, R.
  • Sanchez-Lijarcio, O.
  • Vitoria, I.
  • Bueno-Delgado, M.
  • Belanger-Quintana, A.
  • Morais, A.
  • Pedrón-Giner, C.
  • García, I.
  • Campistol, J.
  • Artuch, R.
  • Alcaide, C.
  • Cornejo, V.
  • Gil, D.
  • Yahyaoui, R.
  • Desviat, L.R.
  • Ugarte, M.
  • Martínez, A.
  • Pérez, B.
... View more Collapse

Human Mutation (p. 1329-1338) - 1/7/2020

Editor: John Wiley and Sons Inc.

10.1002/humu.24026 View at source

  • ISSN 10597794
  • ISSN/ISBN 1098-1004

Novel ndufa13 mutations associated with oxphos deficiency and leigh syndrome: A second family report

  • González-Quintana, A.
  • García-Consuegra, I.
  • Belanger-Quintana, A.
  • Serrano-Lorenzo, P.
  • Lucia, A.
  • Blázquez, A.
  • Docampo, J.
  • Ugalde, C.
  • Morán, M.
  • Arenas, J.
  • Martín, M.A.
... View more Collapse

Genes (p. 1-13) - 2020

Editor: MDPI AG

10.3390/genes11080855 View at source

  • ISSN/ISBN 2073-4425

Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid

  • Cambra Conejero, A.
  • Martínez Figueras, L.
  • Ortiz Temprado, A.
  • Blanco Soto, P.
  • Martín Rivada, Á.
  • Palomino Pérez, L.
  • Cañedo Villarroya, E.
  • Pedrón Giner, C.
  • Quijada Fraile, P.
  • Martín-Hernández, E.
  • García Silva, M.T.
  • Chumillas Calzada, S.
  • Bellusci, M.
  • Belanger-Quintana, A.
  • Stanescu, S.
  • Martínez-Pardo Casanova, M.
  • Moráis López, A.
  • Bergua Martínez, A.
  • Ruiz-Salas, P.
  • Pérez González, B.
  • Ugarte, M.
  • Ruano, M.L.F.
... View more Collapse

Revista espanola de salud publica - 2020

Editor: NLM (Medline)

  • ISSN/ISBN 2173-9110

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

  • Elmonem, M.A.
  • Belanger-Quintana, A.
  • Bordugo, A.
  • Boruah, R.
  • Cortès-Saladelafont, E.
  • Endrakanti, M.
  • Giraldo, P.
  • Grünert, S.C.
  • Gupta, N.
  • Kabra, M.
  • Knerr, I.
  • Krämer, J.
  • Kuster, A.
  • Levtchenko, E.
  • Ngu, L.-H.
  • Rovira-Remisa, M.M.
  • Sass, J.O.
  • Sykut-Cegielska, J.
  • Tummolo, A.
  • van den Heuvel, L.P.
... View more Collapse

Molecular Genetics and Metabolism (p. 285-288) - 2020

Editor: Academic Press Inc.

10.1016/j.ymgme.2020.09.004 View at source

  • ISSN/ISBN 1096-7206

Erratum: PKU dietary handbook to accompany PKU guidelines (Orphanet Journal of Rare Diseases (2020) 15 (171) DOI: 10.1186/s13023-020-01391-y)

  • MacDonald, A.
  • Van Wegberg, A.M.J.
  • Ahring, K.
  • Beblo, S.
  • Bélanger-Quintana, A.
  • Burlina, A.
  • Campistol, J.
  • Coşkun, T.
  • Feillet, F.
  • Giżewska, M.
  • Huijbregts, S.C.
  • Leuzzi, V.
  • Maillot, F.
  • Muntau, A.C.
  • Rocha, J.C.
  • Romani, C.
  • Trefz, F.
  • Van Spronsen, F.J.
... View more Collapse

Orphanet Journal of Rare Diseases - 2020

Editor: BioMed Central Ltd

10.1186/s13023-020-01486-6 View at source

  • ISSN/ISBN 1750-1172

PKU dietary handbook to accompany PKU guidelines

  • MacDonald, A.
  • Van Wegberg, A.M.J.
  • Ahring, K.
  • Beblo, S.
  • Bélanger-Quintana, A.
  • Burlina, A.
  • Campistol, J.
  • Coşkun, T.
  • Feillet, F.
  • Giżewska, M.
  • Huijbregts, S.C.
  • Leuzzi, V.
  • Maillot, F.
  • Muntau, A.C.
  • Rocha, J.C.
  • Rocha, J.C.
  • Romani, C.
  • Trefz, F.
  • Van Spronsen, F.J.
... View more Collapse

Orphanet Journal of Rare Diseases - 2020

Editor: BioMed Central Ltd

10.1186/s13023-020-01391-y View at source

  • ISSN/ISBN 1750-1172

Dietary practices in methylmalonic acidaemia: A European survey

  • Pinto, A.
  • Evans, S.
  • Daly, A.
  • Almeida, M.F.
  • Assoun, M.
  • Belanger-Quintana, A.
  • Bernabei, S.M.
  • Bollhalder, S.
  • Cassiman, D.
  • Champion, H.
  • Chan, H.
  • Corthouts, K.
  • Dalmau, J.
  • Boer, F.D.
  • Laet, C.D.
  • Meyer, A.D.
  • Desloovere, A.
  • Dianin, A.
  • Dixon, M.
  • Dokoupil, K.
  • Dubois, S.
  • Eyskens, F.
  • Faria, A.
  • Fasan, I.
  • Favre, E.
  • Feillet, F.
  • Fekete, A.
  • Gallo, G.
  • Gingell, C.
  • Gribben, J.
  • Hansen, K.K.
  • Horst, N.T.
  • Jankowski, C.
  • Janssen-Regelink, R.
  • Jones, I.
  • Jouault, C.
  • Kahrs, G.E.
  • Kok, I.
  • Kowalik, A.
  • Laguerre, C.
  • Verge, S.L.
  • Liguori, A.
  • Lilje, R.
  • Maddalon, C.
  • Mayr, D.
  • Meyer, U.
  • Micciche, A.
  • Och, U.
  • Robert, M.
  • Rocha, J.C.
  • Rogozinski, H.
  • Rohde, C.
  • Ross, K.
  • Saruggia, I.
  • Schlune, A.
  • Singleton, K.
  • Sjoqvist, E.
  • Skeath, R.
  • Stolen, L.H.
  • Terry, A.
  • Timmer, C.
  • Tomlinson, L.
  • Tooke, A.
  • Kerckhove, K.V.
  • Van Dam, E.
  • Hurk, D.V.D.
  • Ploeg, L.V.D.
  • Van Driessche, M.
  • Van Rijn, M.
  • Wegberg, A.V.
  • Vasconcelos, C.
  • Vestergaard, H.
  • Vitoria, I.
  • Webster, D.
  • White, F.
  • White, L.
  • Zweers, H.
  • Macdonald, A.
... View more Collapse

Journal of Pediatric Endocrinology and Metabolism (p. 147-155) - 2020

Editor: De Gruyter Open Ltd

10.1515/jpem-2019-0277 View at source

  • ISSN/ISBN 2191-0251

Carglumic acid (Carbaglu®) treatment in hyperammonemia post liver transplantation

  • Arrieta, F.
  • Belanger-Quintana, A.
  • Gajate, L.
  • Grau, J.
  • Pintor, R.

Endocrinologia, Diabetes y Nutricion (p. 148-149) - 2020

Editor: Sociedad Espanola de Endocrinologia y Nutricion

10.1016/j.endinu.2019.06.006 View at source

  • ISSN/ISBN 2530-0172

Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

  • Cano, A.
  • Alcalde, C.
  • Belanger-Quintana, A.
  • Cañedo-Villarroya, E.
  • Ceberio, L.
  • Chumillas-Calzada, S.
  • Correcher, P.
  • Couce, M.L.
  • García-Arenas, D.
  • Gómez, I.
  • Hernández, T.
  • Izquierdo-García, E.
  • Chicano, D.M.
  • Morales, M.
  • Pedrón-Giner, C.
  • Jáuregui, E.P.
  • Peña-Quintana, L.
  • Sánchez-Pintos, P.
  • Serrano-Nieto, J.
  • Suarez, M.U.
  • Miñana, I.V.
  • de las Heras, J.
... View more Collapse

Journal of Clinical Medicine - 2021

Editor: MDPI

10.3390/jcm10132932 View at source

  • ISSN/ISBN 2077-0383

Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance

  • Stanescu, S.
  • Belanger-Quintana, A.
  • Fernandez-Felix, B.M.
  • Arrieta, F.
  • Quintero, V.
  • Maldonado, M.S.
  • Alcaide, P.
  • Martínez-Pardo, M.
... View more Collapse

Orphanet Journal of Rare Diseases - 2021

Editor: BioMed Central Ltd

10.1186/s13023-021-01865-7 View at source

  • ISSN/ISBN 1750-1172

This researcher has no books.

Hígado. Hepatopatías de la etiología metabólica

  • Amaya Bélanger Quintana
  • Mercedes Martínez-Pardo Casanova

Tratado de gastroenterología, hepatología y nutrición pediátrica aplicada de la SEGHNP (p. 454-473) - 2010

Editor: Ergon

  • ISSN/ISBN 978-84-8473-891-6

The Kuvan® adult maternal paediatric european registry (KAMPER) multinational observational study: Baseline and 1-year data in phenylketonuria patients responsive to sapropterin

  • Trefz, F.K.
  • Muntau, A.C.
  • Lagler, F.B.
  • Moreau, F.
  • Alm, J.
  • Burlina, A.
  • Rutsch, F.
  • Bélanger-Quintana, A.
  • Feillet, F.
... View more Collapse

JIMD Reports (p. 35-43) - 2015

Editor: Springer

10.1007/8904_2015_425 View at source

  • ISSN/ISBN 2192-8312

Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers

  • Merinero, B.
  • Alcaide, P.
  • Martín-Hernández, E.
  • Morais, A.
  • García-Silva, M.T.
  • Quijada-Fraile, P.
  • Pedrón-Giner, C.
  • Dulin, E.
  • Yahyaoui, R.
  • Egea, J.M.
  • Belanger-Quintana, A.
  • Blasco-Alonso, J.
  • Fernandez Ruano, M.L.
  • Besga, B.
  • Ferrer-López, I.
  • Leal, F.
  • Ugarte, M.
  • Ruiz-Sala, P.
  • Pérez, B.
  • Pérez-Cerdá, C.
... View more Collapse

JIMD Reports (p. 63-74) - 2018

Editor: Springer

10.1007/8904_2017_40 View at source

  • ISSN/ISBN 2192-8312

This researcher has no conferences.

This researcher has no working papers.

This researcher has no technical reports.

This researcher has no research projects.

This researcher has no supervised thesis.

This researcher has no patents or software licenses.

Last data update: 4/24/24 1:18 PM