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Belanger Quintana, Amaya

Medicina y Especialidades Médicas / Universidad de Alcalá

Publications

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype

  • Desviat, L.R.
  • Pérez, B.
  • Bèlanger-Quintana, A.
  • Castro, M.
  • Aguado, C.
  • Sánchez, A.
  • García, M.J.
  • Martínez-Pardo, M.
  • Ugarte, M.
... View more Collapse

Molecular Genetics And Metabolism (p. 157-162) - 1/9/2004

10.1016/j.ymgme.2004.06.007 View at source

  • ISSN 10967192
  • ISSN/ISBN 1096-7192

The Genetic Landscape and Epidemiology of Phenylketonuria

  • Hillert, A.
  • Anikster, Y.
  • Belanger-Quintana, A.
  • Burlina, A.
  • Burton, B.K.
  • Carducci, C.
  • Chiesa, A.E.
  • Christodoulou, J.
  • Đorđević, M.
  • Desviat, L.R.
  • Eliyahu, A.
  • Evers, R.A.F.
  • Fajkusova, L.
  • Feillet, F.
  • Bonfim-Freitas, P.E.
  • Giżewska, M.
  • Gundorova, P.
  • Karall, D.
  • Kneller, K.
  • Kutsev, S.I.
  • Leuzzi, V.
  • Levy, H.L.
  • Lichter-Konecki, U.
  • Muntau, A.C.
  • Namour, F.
  • Oltarzewski, M.
  • Paras, A.
  • Perez, B.
  • Polak, E.
  • Polyakov, A.V.
  • Porta, F.
  • Rohrbach, M.
  • Scholl-Bürgi, S.
  • Spécola, N.
  • Stojiljković, M.
  • Shen, N.
  • Santana-da Silva, L.C.
  • Skouma, A.
  • van Spronsen, F.
  • Stoppioni, V.
  • Thöny, B.
  • Trefz, F.K.
  • Vockley, J.
  • Yu, Y.
  • Zschocke, J.
  • Hoffmann, G.F.
  • Garbade, S.F.
  • Blau, N.
... View more Collapse

American Journal Of Human Genetics (p. 234-250) - 1/1/2020

Editor: Cell Press

10.1016/j.ajhg.2020.06.006 View at source

  • ISSN 00029297
  • ISSN/ISBN 1537-6605

The challenges of managing coexistent disorders with phenylketonuria: 30 cases

  • MacDonald, A.
  • Ahring, K.
  • Almeida, M.F.
  • Belanger-Quintana, A.
  • Blau, N.
  • Burlina, A.
  • Cleary, M.
  • Coskum, T.
  • Dokoupil, K.
  • Evans, S.
  • Feillet, F.
  • Gizewska, M.
  • Gokmen Ozel, H.
  • Lotz-Havla, A.S.
  • Kamieńska, E.
  • Maillot, F.
  • Lammardo, A.M.
  • Muntau, A.C.
  • Puchwein-Schwepcke, A.
  • Robert, M.
  • Rocha, J.C.
  • Santra, S.
  • Skeath, R.
  • Straczek, K.
  • Trefz, F.K.
  • van Dam, E.
  • van Rijn, M.
  • van Spronsen, F.
  • Vijay, S.
... View more Collapse

Molecular Genetics and Metabolism (p. 242-251) - 2015

Editor: Academic Press Inc.

10.1016/j.ymgme.2015.10.001 View at source

  • ISSN/ISBN 1096-7206

The complete European guidelines on phenylketonuria: Diagnosis and treatment

  • Van Wegberg, A.M.J.
  • MacDonald, A.
  • Ahring, K.
  • Bélanger-Quintana, A.
  • Blau, N.
  • Bosch, A.M.
  • Burlina, A.
  • Campistol, J.
  • Feillet, F.
  • Giżewska, M.
  • Huijbregts, S.C.
  • Kearney, S.
  • Leuzzi, V.
  • Maillot, F.
  • Muntau, A.C.
  • Van Rijn, M.
  • Trefz, F.
  • Walter, J.H.
  • Van Spronsen, F.J.
... View more Collapse

Orphanet Journal of Rare Diseases - 2017

Editor: BioMed Central Ltd.

10.1186/s13023-017-0685-2 View at source

  • ISSN/ISBN 1750-1172

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

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

Trasplante de progenitores hematopoyéticos en las inmunodeficiencias primarias

  • Bélanger-Quintana, A.
  • Romero, M.S.J.

Revista Espanola de Pediatria (p. 355-361) - 2001

  • ISSN/ISBN 0034-947X

Up to date knowledge on different treatment strategies for phenylketonuria

  • Bélanger-Quintana, A.
  • Burlina, A.
  • Harding, C.O.
  • Muntau, A.C.

Molecular Genetics and Metabolism - 2011

10.1016/j.ymgme.2011.08.009 View at source

  • ISSN/ISBN 1096-7192

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

  • Martín-Hernández, E.
  • Aldámiz-Echevarría, L.
  • Castejón-Ponce, E.
  • Pedrón-Giner, C.
  • Couce, M.L.
  • Serrano-Nieto, J.
  • Pintos-Morell, G.
  • Bélanger-Quintana, A.
  • Martínez-Pardo, M.
  • García-Silva, M.T.
  • Quijada-Fraile, P.
  • Vitoria-Miñana, I.
  • Dalmau, J.
  • Lama-More, R.A.
  • Bueno-Delgado, M.A.
  • Del Toro-Riera, M.
  • García-Jiménez, I.
  • Sierra-Córcoles, C.
  • Ruiz-Pons, M.
  • Peña-Quintana, L.J.
  • Vives-Piñera, I.
  • Moráis, A.
  • Balmaseda-Serrano, E.
  • Meavilla, S.
  • Sanjurjo-Crespo, P.
  • Pérez-Cerdá, C.
... View more Collapse

Orphanet journal of rare diseases (p. 187) - 2014

10.1186/s13023-014-0187-4 View at source

  • ISSN/ISBN 1750-1172

Use of sapropterin in the management of phenylketonuria: Seven case reports

  • Gokmen Ozel, H.
  • Lammardo, A.M.
  • Motzfeldt, K.
  • Robert, M.
  • Rocha, J.C.
  • van Rijn, M.
  • Ahring, K.
  • Bélanger-Quintana, A.
  • MacDonald, A.
  • Dokoupil, K.
... View more Collapse

Molecular Genetics and Metabolism (p. 109-111) - 2013

10.1016/j.ymgme.2012.11.012 View at source

  • ISSN/ISBN 1096-7192

This researcher has no books.

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

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

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