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Search Results - Pinera, Inmaculada Vives
Search Results - Pinera, Inmaculada Vives
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
by
Martín-Hernández, Elena
,
Aldámiz-Echevarría, Luis
,
Castejón-Ponce, Esperanza
,
Pedrón-Giner, Consuelo
,
Couce, María Luz
,
Serrano-Nieto, Juliana
,
Pintos-Morell, Guillem
,
Bélanger-Quintana, Amaya
,
Martínez-Pardo, Mercedes
,
García-Silva, María Teresa
,
Quijada-Fraile, Pilar
,
Vitoria-Miñana, Isidro
,
Dalmau, Jaime
,
Lama-More, Rosa A
,
Bueno-Delgado, María Amor
,
Del Toro-Riera, Mirella
,
García-Jiménez, Inmaculada
,
Sierra-Córcoles, Concepción
,
Ruiz-Pons, Mónica
,
Peña-Quintana, Luis J
,
Vives-Piñera, Inmaculada
,
Moráis, Ana
,
Balmaseda-Serrano, Elena
,
Meavilla, Silvia
,
Sanjurjo-Crespo, Pablo
,
Pérez-Cerdá, Celia
Published in
Orphanet journal of rare diseases
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Impact of age at onset and newborn screening on outcome in organic acidurias
by
Heringer, Jana
,
Valayannopoulos, Vassili
,
Lund, Allan M.
,
Wijburg, Frits A.
,
Freisinger, Peter
,
Barić, Ivo
,
Baumgartner, Matthias R.
,
Burgard, Peter
,
Burlina, Alberto B.
,
Chapman, Kimberly A.
,
i Saladelafont, Elisenda Cortès
,
Karall, Daniela
,
Mühlhausen, Chris
,
Riches, Victoria
,
Schiff, Manuel
,
Sykut-Cegielska, Jolanta
,
Walter, John H.
,
Zeman, Jiri
,
Chabrol, Brigitte
,
Kölker, Stefan
Published in
Journal of inherited metabolic disease
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Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias
by
Heringer, Jana
,
Valayannopoulos, Vassili
,
Lund, Allan M.
,
Wijburg, Frits A.
,
Freisinger, Peter
,
Barić, Ivo
,
Baumgartner, Matthias R.
,
Burgard, Peter
,
Burlina, Alberto B.
,
Chapman, Kimberly A.
,
i Saladelafont, Elisenda Cortès
,
Karall, Daniela
,
Mühlhausen, Chris
,
Riches, Victoria
,
Schiff, Manuel
,
Sykut-Cegielska, Jolanta
,
Walter, John H.
,
Zeman, Jiri
,
Chabrol, Brigitte
,
Kölker, Stefan
Published in
Journal of inherited metabolic disease
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Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry
by
Huemer, Martina
,
Diodato, Daria
,
Martinelli, Diego
,
Olivieri, Giorgia
,
Blom, Henk
,
Gleich, Florian
,
Kölker, Stefan
,
Kožich, Viktor
,
Morris, Andrew A.
,
Seifert, Burkhardt
,
Froese, D. Sean
,
Baumgartner, Matthias R.
,
Dionisi‐Vici, Carlo
,
Martin, Carlos Alcalde
,
Baethmann, Martina
,
Ballhausen, Diana
,
Blasco‐Alonso, Javier
,
Boy, Nikolas
,
Bueno, Maria
,
Burgos Peláez, Rosa
,
Cerone, Roberto
,
Chabrol, Brigitte
,
Chapman, Kimberly A.
,
Couce, Maria Luz
,
Crushell, Ellen
,
Dalmau Serra, Jaime
,
Diogo, Luisa
,
Ficicioglu, Can
,
García Jimenez, Maria Concepcion
,
García Silva, Maria Teresa
,
Gaspar, Ana Maria
,
Gautschi, Matthias
,
González‐Lamuño, Domingo
,
Gouveia, Sofia
,
Grünewald, Stephanie
,
Hendriksz, Chris
,
Janssen, Mirian C. H.
,
Jesina, Pavel
,
Koch, Johannes
,
Konstantopoulou, Vassiliki
,
Lavigne, Christian
,
Lund, Allan M.
,
Martins, Esmeralda G.
,
Meavilla Olivas, Silvia
,
Mention, Karine
,
Mochel, Fanny
,
Mundy, Helen
,
Murphy, Elaine
,
Paquay, Stephanie
,
Pedrón‐Giner, Consuelo
,
Ruiz Gómez, Maria Angeles
,
Santra, Saikat
,
Schiff, Manuel
,
Schwartz, Ida Vanessa
,
Scholl‐Bürgi, Sabine
,
Servais, Aude
,
Skouma, Anastasia
,
Tran, Christel
,
Vives Piñera, Inmaculada
,
Walter, John
,
Weisfeld‐Adams, James
Published in
Journal of inherited metabolic disease
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Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
by
Kožich, Viktor
,
Sokolová, Jitka
,
Morris, Andrew A. M.
,
Pavlíková, Markéta
,
Gleich, Florian
,
Kölker, Stefan
,
Krijt, Jakub
,
Dionisi‐Vici, Carlo
,
Baumgartner, Matthias R.
,
Blom, Henk J.
,
Huemer, Martina
,
Aldámiz‐Echevarría, Luis
,
Arantes, Rodrigo Rezende
,
Arrieta, Francisco
,
Blasco‐Alonso, Javier
,
Brouwers, Martijn
,
Brunner‐Krainz, Michaela
,
Bueno, María
,
Peláez, Rosa Burgos
,
Cano, Aline
,
Couce, María‐Luz
,
Crushell, Ellen
,
Ficicioglu, Can
,
Forny, Patrick
,
García Jiménez, María Concepción
,
Gaspar, Ana
,
González‐Lamuño Leguina, Domingo
,
Chapman, Kimberly A.
,
Chien, Yin‐Hsiu
,
Janssen, Mirian C.H.
,
Ješina, Pavel
,
Lachmann, Robin
,
Lavigne, Christian
,
Lund, Allan M.
,
Lüsebrink, Natalia
,
Maillot, Francois
,
Martins, Ana Maria
,
Olivas, Silvia Meavilla
,
Mention, Karine
,
Mochel, Fanny
,
Monavari, Ahmad
,
Moreira, Sónia
,
Moreno, Carolina Araujo
,
Muačević‐Katanec, Diana
,
Mundy, Helen
,
Murphy, Elaine
,
Olivieri, Giorgia
,
Paquay, Stéphanie
,
Pedrón‐Giner, Consuelo
,
Quintana, Luís Peña
,
Porras‐Hurtado, Gloria L.
,
Fraile, Pilar Quijada
,
Redonnet‐Vernhet, Isabelle
,
Rennings, Alexander J.M.
,
Pons, Mònica Ruiz
,
Santra, Saikat
,
Servais, Aude
,
Schiaffino, Maria Cristina
,
Schiff, Manuel
,
Schwahn, Bernd C.
,
Schwartz, Ida V.D.
,
Sremba, Leighann J.
,
Stainforth, Collette
,
Stepien, Karolina M.
,
Sykut‐Cegielska, Jolanta
,
Terry, Allyson
,
Tran, Christel
,
Miñana, Isidro Vitoria
,
Vives‐Piñera, Inmaculada
,
Williams, Monique
,
Zeman, Jiří
,
Zielonka, Matthias
Published in
Journal of inherited metabolic disease
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