Belanger Quintana, Amaya

Publications

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.
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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

Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology

  • Stanescu, S.
  • Belanger-Quintana, A.
  • Fernandez-Felix, B.M.
  • Ruiz-Sala, P.
  • del Valle, M.
  • Garcia, F.
  • Arrieta, F.
  • Martinez-Pardo, M.
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Amino Acids (p. 777-786) - 2022

Editor: Springer

10.1007/s00726-022-03128-6 View at source

  • ISSN/ISBN 1438-2199

Síndrorne de Pascual-Castroviejo II: Asociación de hemangioma facial, alteración de fosa posterior y cardiopatía congénita

  • Bélanger Quintana, A.
  • Aparicio Meix, J.M.
  • Quintana Castilla, A.

Anales Espanoles de Pediatria (p. 588-589) - 2002

  • ISSN/ISBN 0302-4342

Narcolepsia-cataplejía, unaenfermedad de etiologíaautoinmune

  • Navarro-Abia, V.
  • Pedrera-Mazarro, A.J.
  • Belanger-Quintana, A.
  • Aparicio-Meix, J.M.

Anales de Pediatria (p. 271-272) - 2015

Editor: Elsevier Doyma

10.1016/j.anpedi.2014.10.026 View at source

  • ISSN/ISBN 1695-9531

Miofibromatosis infantil sistémica en un lactante

  • Amaya Bélanger Quintana
  • J. M. Aparicio Meix
  • Jesús Cuevas Santos
  • Arturo Muñoz Villa

Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ) (p. 83-86) - 2001

Editor: Elsevier España

10.1016/s1695-4033(01)77633-3 View at source

Miofibromatosis infantil sistémica en un lactante

  • Bélanger Quintana, A.
  • Aparicio Meix, J.M.
  • Cuevas Santos, J.
  • Muñoz Villa, A.

Anales españoles de pediatría: Publicación oficial de la Asociación Española de Pediatría ( AEP ) (p. 83-86) - 2001

Editor: Doyma

  • ISSN/ISBN 0302-4342

Weight Management in Phenylketonuria: What Should Be Monitored?

  • César Rocha, J.
  • Van Rijn, M.
  • Van Dam, E.
  • Ahring, K.
  • Bélanger-Quintana, A.
  • Dokoupil, K.
  • Gokmen Ozel, H.
  • Lammardo, A.M.
  • Robert, M.
  • Heidenborg, C.
  • MacDonald, A.
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Annals of Nutrition and Metabolism (p. 60-65) - 2016

Editor: S. Karger AG

10.1159/000442304 View at source

  • ISSN/ISBN 1421-9697

Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol

  • Stanescu, S.
  • Belanger-Quintana, A.
  • Fernández-Felix, B.M.
  • Ruiz-Sala, P.
  • Alcaide, P.
  • Arrieta, F.
  • Martínez-Pardo, M.
... View more Collapse

Antioxidants - 2022

Editor: MDPI

10.3390/antiox11081588 View at source

  • ISSN/ISBN 2076-3921

Adjusting diet with sapropterin in phenylketonuria: What factors should be considered?

  • MacDonald, A.
  • Ahring, K.
  • Dokoupil, K.
  • Gokmen-Ozel, H.
  • Lammardo, A.M.
  • Motzfeldt, K.
  • Robert, M.
  • Rocha, J.C.
  • Van Rijn, M.
  • Bélanger-Quintana, A.
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British Journal of Nutrition (p. 175-182) - 2011

10.1017/s0007114511000298 View at source

  • ISSN/ISBN 0007-1145

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

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.
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JIMD Reports (p. 63-74) - 2018

Editor: Springer

10.1007/8904_2017_40 View at source

  • ISSN/ISBN 2192-8312

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.
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JIMD Reports (p. 35-43) - 2015

Editor: Springer

10.1007/8904_2015_425 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

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