Belanger Quintana, Amaya

Publications

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

10.1016/j.ymgme.2009.01.002 View at source

  • ISSN/ISBN 1096-7192

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.
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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

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

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

  • ISSN/ISBN 0141-8955

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

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

Hyperammonaemia as a cause of psychosis in an adolescent

  • Bélanger-Quintana, A.
  • Martínez-Pardo, M.
  • García, M.J.
  • Wermuth, B.
  • Torres, J.
  • Pallarés, E.
  • Ugarte, M.
... View more Collapse

European Journal of Pediatrics (p. 773-775) - 2003

Editor: Springer Verlag

10.1007/s00431-002-1126-2 View at source

  • ISSN/ISBN 0340-6199

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

Angiotensin I converting enzyme gene polymorphism and reflux nephropathy in children [1]

  • Gallego, N.
  • Estepa, R.
  • Tellería, D.
  • San Millán, J.L.
  • Belanger, A.
  • Ortuño, J.

Nephron (p. 231-232) - 2001

10.1159/000046074 View at source

  • ISSN/ISBN 0028-2766

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

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

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