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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

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin

  • Bélanger-Quintana, A.
  • García, M.J.
  • Castro, M.
  • Desviat, L.R.
  • Pérez, B.
  • Mejía, B.
  • Ugarte, M.
  • Martínez-Pardo, M.
... View more Collapse

Molecular Genetics And Metabolism (p. S61-S66) - 1/1/2005

Editor: Academic Press Inc.

10.1016/j.ymgme.2005.07.024 View at source

  • ISSN 10967192
  • ISSN/ISBN 1096-7206

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

  • Merinero, B.
  • Pérez-Cerdá, C.
  • Ruiz Sala, P.
  • Ferrer, I.
  • García, M.J.
  • Martínez Pardo, M.
  • Belanger-Quintana, A.
  • de la Mota, J.L.
  • Martin-Hernández, E.
  • Vianey-Saban, C.
  • Bischoff, C.
  • Gregersen, N.
  • Ugarte, M.
... View more Collapse

Journal of inherited metabolic disease (p. 685) - 2006

10.1007/s10545-006-0342-8 View at source

  • ISSN/ISBN 0141-8955

BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor

  • Aguado, C.
  • Pérez, B.
  • Garcéa, M.J.
  • Bélanger-Quintana, A.
  • Martínez-Pardo, M.
  • Ugarte, M.
  • Desviat, L.R.
... View more Collapse

Clinica Chimica Acta (p. 8-12) - 1/1/2007

Editor: Elsevier B.V.

10.1016/j.cca.2007.02.034 View at source

  • ISSN 00098981
  • ISSN/ISBN 1873-3492

Dietary management practices in phenylketonuria across European centres

  • Ahring, K.
  • Bélanger-Quintana, A.
  • Dokoupil, K.
  • Ozel, H.G.
  • Lammardo, A.M.
  • MacDonald, A.
  • Motzfeldt, K.
  • Nowacka, M.
  • Robert, M.
  • van Rijn, M.
... View more Collapse

Clinical Nutrition (p. 231-236) - 2009

10.1016/j.clnu.2009.03.004 View at source

  • ISSN/ISBN 0261-5614

Optimizing the use of sapropterin (BH4) in the management of phenylketonuria

  • Blau, N.
  • Bélanger-Quintana, A.
  • Demirkol, M.
  • Feillet, F.
  • Giovannini, M.
  • MacDonald, A.
  • Trefz, F.K.
  • van Spronsen, F.J.
... View more Collapse

Molecular Genetics and Metabolism (p. 158-163) - 2009

10.1016/j.ymgme.2009.01.002 View at source

  • ISSN/ISBN 1096-7192

Management of phenylketonuria in Europe: Survey results from 19 countries

  • Blau, N.
  • Bélanger-Quintana, A.
  • Demirkol, M.
  • Feillet, F.
  • Giovannini, M.
  • MacDonald, A.
  • Trefz, F.K.
  • Van Spronsen, F.
  • Karall, D.
  • Scholl-Bürgi, S.
  • Tahirovic, H.
  • Toromanovic, A.
  • Baric, I.
  • Sarnavka, V.
  • Prochazkova, D.
  • Pazdirkova, R.
  • Güttler, F.
  • Niinikoski, H.
  • Bonnemains, C.
  • Marioli, S.
  • Barat, P.
  • De Parscau, L.
  • Meyer, M.
  • Bedu, A.
  • Fouilhoux, A.
  • Chabrol, B.
  • Wagner, K.
  • Billette De Villemeur, T.
  • De Lonlay-Debeney, P.
  • Ogier De Baulny, H.
  • Odent, S.
  • Eyer, D.
  • Labarthe, F.
  • Hennermann, J.B.
  • Mönch, E.
  • Stolz, S.
  • Spiekerkötter, U.
  • Knerr, I.
  • Schwab, K.O.
  • Kreuder, J.
  • Ullrich, K.
  • Das, A.M.
  • Burgard, P.
  • Kon-Stantopoulou, V.
  • Lindner, M.
  • Müller, E.
  • Haase, C.
  • Beblo, S.
  • Weigel, J.
  • Plötzch, S.
  • Muntau, A.
  • Weglage, J.
  • Marquardt, J.
  • Scheible, D.
  • Clemens, P.
  • Schulpis, K.H.
  • Papadia, F.
  • Salardi, S.
  • Meli, C.
  • Donati, M.A.
  • Procopio, E.
  • Cerone, R.
  • Riva, E.
  • Giovannini, M.
  • Paci, S.
  • Carbone, M.T.
  • Burlina, A.
  • Lapichino, L.
  • Cotugno, G.
  • Leuzzi, V.
  • Rubio-Gozalbo, E.
  • De Vries, M.
  • De Klerk, J.B.C.
  • Iversen, K.
  • Wiig, I.
  • Jørgensen, J.
  • Milanowski, A.
  • Nowacka, M.
  • Djordjevic, M.
  • Laketa, C.
  • Gutiérrez-Junquera, C.
  • Márquez-Armenteros, A.
  • Vilaseca Busca, M.A.
  • Campistol Plana, J.
  • Peña-Quintana, L.
  • Gil-Ortega, D.
  • Gomez, A.R.
  • Valverde, F.S.
  • Gonzalez-Lamuno, D.
  • Couce-Pico, M.L.
  • Dalmau Serra, J.
  • Baldellou-Vazquez, A.
  • Garcia-Jimenez, M.C.
  • Papadopoulou, D.
  • Almm, J.
  • Halldin Stenlid, M.
  • Nuoffer, J.M.
  • Rohrbach, M.
  • Baumgartner, M.
  • Onenli-Mungan, N.
  • Yüksel, B.
  • Aydin, H.
  • Coskun, T.
  • Dursun, A.
  • Kalkanoglu, S.H.S.
  • Tokatli, A.
  • Eminoglu, F.T.
  • Hasanoglu, A.
  • Okur, I.
  • Süheyl, E.F.
  • Tumer, L.
  • Aydogdu, S.
  • Aktuglu-Zeybek, A.C.
  • Cansever, S.
  • Arslan, N.
  • Erdur, B.
  • Ozturk, Y.
  • Coker, M.
  • Kalkan, U.S.
  • Hizel-Bülbül, S.
  • Tanzer, F.
  • MacDonald, A.
  • Chakrapani, A.
  • Hendriksz, C.J.
  • Galloway, P.
  • Robinson, P.
  • Schwann, B.
  • Cleary, M.A.
  • Walter, J.
... View more Collapse

Molecular Genetics and Metabolism (p. 109-115) - 2010

Editor: Academic Press Inc.

10.1016/j.ymgme.2009.09.005 View at source

  • ISSN/ISBN 1096-7206

Sapropterin dihydrochloride: A new drug and a new concept in the management of phenylketonuria

  • Trefz, F.K.
  • Bélanger-Quintana, A.

Drugs of Today (p. 589-600) - 2010

10.1358/dot.2010.46.8.1509557 View at source

  • ISSN/ISBN 1699-3993

Challenges and pitfalls in the management of phenylketonuria

  • Feillet, F.
  • Van Spronsen, F.J.
  • MacDonald, A.
  • Trefz, F.K.
  • Demirkol, M.
  • Giovannini, M.
  • Bélanger-Quintana, A.
  • Blau, N.
... View more Collapse

Pediatrics (p. 333-341) - 2010

10.1542/peds.2009-3584 View at source

  • ISSN/ISBN 0031-4005

Physical development in patients with phenylketonuria on dietary treatment: A retrospective study

  • Belanger-Quintana, A.
  • Martínez-Pardo, M.

Molecular Genetics and Metabolism (p. 480-484) - 2011

10.1016/j.ymgme.2011.08.002 View at source

  • ISSN/ISBN 1096-7192

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