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  2. Kuseyri Hübschmann, Oya [Author]; Mohr, Alexander [Author]; Friedman, Jennifer [Author]; Manti, Filippo [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Mercimek-Andrews, Saadet [Author]; Yildiz, Yilmaz [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Oppebøen, Mari [Author]; Koht, Jeanette Aimee [Author]; Podzamczer-Valls, Inés [Author]; Domingo-Jimenez, Rosario [Author]; Ibáñez, Salvador [Author]; Alcoverro-Fortuny, Oscar [Author]; Gómez-Alemany, Teresa [Author]; de Castro, Pedro [Author]; Alfonsi, Chiara [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Guder, Philipp [Author]; Santer, René [Author]; Honzík, Tomáš [Author]; [...]

    Brain MR patterns in inherited disorders of monoamine neurotransmitters : an analysis of 70 patients

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    July 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 4 vom: Juli, Seite 1070-1082

  3. Posset, Roland [Author]; Garbade, Sven [Author]; Gleich, Florian [Author]; Nagamani, Sandesh C. S. [Author]; Gropman, Andrea L. [Author]; Epp, Friederike [Author]; Ramdhouni, Nesrine [Author]; Druck, Ann-Catrin [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Zielonka, Matthias [Author]; Schulze, Andreas [Author]; García-Cazorla, Angeles [Author]; Ficicioglu, Can [Author]; Harding, Cary O. [Author]; Lam, Christina [Author]; Coughlin, Curtis R. [Author]; Le Mons, Cynthia [Author]; Wong, Derek [Author]; Dobbelaere, Dries [Author]; Diaz, George A. [Author]; Berry, Gerard T. [Author]; Enns, Gregory M. [Author]; Wilkening, Greta [Author]; [...]

    Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders

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    March 2024

    Published in: Molecular genetics and metabolism ; 141(2024), 3 vom: März, Artikel-ID 108112, Seite 1-9

  4. Keller, Mareike [Author]; Brennenstuhl, Heiko [Author]; Kuseyri Hübschmann, Oya [Author]; Manti, Filippo [Author]; Julia Palacios, Natalia Alexandra [Author]; Friedman, Jennifer R. [Author]; Yıldız, Yılmaz [Author]; Koht, Jeanette Aimee [Author]; Wong, Suet-Na [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Jeltsch, Kathrin [Author]; Serrano-Lomelin, Jesus [Author]; Garbade, Sven [Author]; Opladen, Thomas [Author]; Goez, Helly [Author]; Burlina, Alberto [Author]; Cortès-Saladelafont, Elisenda [Author]; Fernández Ramos, Joaquín Alejandro [Author]; García-Cazorla, Angeles [Author]; Hoffmann, Georg F. [Author]; Kiat Hong, Stacey Tay [Author]; [...]

    Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry

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    November 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 6 vom: Nov., Seite 1489-1502

  5. Kuseyri Hübschmann, Oya [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Yıldız, Yılmaz [Author]; Pons, Roser [Author]; Friedman, Jennifer [Author]; Mercimek-Andrews, Saadet [Author]; Wong, Suet-Na [Author]; Pearson, Toni S. [Author]; Zafeiriou, Dimitrios I. [Author]; Kulhánek, Jan [Author]; Kurian, Manju A. [Author]; López-Laso, Eduardo [Author]; Oppebøen, Mari [Author]; Kılavuz, Sebile [Author]; Wassenberg, Tessa [Author]; Goez, Helly [Author]; Scholl-Bürgi, Sabine [Author]; Porta, Francesco [Author]; Honzík, Tomáš [Author]; Santer, René [Author]; Burlina, Alberto [Author]; Sivri, H. Serap [Author]; Leuzzi, Vincenzo [Author]; [...]

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

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    20 September 2021

    Published in: Nature Communications ; 12(2021), Artikel-ID 5529, Seite 1-13

  8. Sánchez-Pintos, Paula; Meavilla, Silvia; López-Ramos, María Goretti; García-Cazorla, Ángeles; Couce, Maria L.

    Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease

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    Frontiers Media SA, 2022

    Published in: Frontiers in Pediatrics, 10 (2022)

  11. Garcia-Arenas, Dolores; Barrau-Martinez, Blanca; Gonzalez-Rodriguez, Arnau; Llorach, Rafael; Campistol-Plana, Jaume; García-Cazorla, Angeles; Ormazabal, Aida; Urpi-Sarda, Mireia

    Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods

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    MDPI AG, 2023

    Published in: Nutrients, 15 (2023) 15, Seite 3475

  12. Chakrapani, Anupam; Valayannopoulos, Vassili; Segarra, Nuria García; Del Toro, Mireia; Donati, Maria Alice; García-Cazorla, Angeles; González, María Julieta; Plisson, Celine; Giordano, Vincenzo

    Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

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    Springer Science and Business Media LLC, 2018

    Published in: Orphanet Journal of Rare Diseases, 13 (2018) 1

  13. García-Villoria, Judit; Gort, Laura; Madrigal, Irene; Fons, Carme; Fernández, Cristina; Navarro-Sastre, Aleix; Mila, M; Briones, Paz; García-Cazorla, Ma Angeles; Campistol, Jaume; Ribes, Antonia

    Reply to He et al

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    Springer Science and Business Media LLC, 2011

    Published in: European Journal of Human Genetics, 19 (2011) 2, Seite 124-124

  14. García-Villoria, Judit; Gort, Laura; Madrigal, Irene; Fons, Carme; Fernández, Cristina; Navarro-Sastre, Aleix; Milà, Montserrat; Briones, Paz; García-Cazorla, Angeles; Campistol, Jaume; Ribes, Antonia

    X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency

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    Springer Science and Business Media LLC, 2010

    Published in: European Journal of Human Genetics, 18 (2010) 12, Seite 1353-1355

  15. Tost, Ana; Bachiller, Alejandro; Medina-Rivera, Inés; Romero, Sergio; Serna, Leidy-Yanet; Rojas-Martínez, Monica; García-Cazorla, Ángeles; Mañanas, Miguel Ángel

    Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome

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    Springer Science and Business Media LLC, 2024

    Published in: Pediatric Research (2024)

  16. Tokatly Latzer, Itay; Hanson, Ellen; Bertoldi, Mariarita; García‐Cazorla, Àngeles; Tsuboyama, Melissa; MacMullin, Paul; Rotenberg, Alexander; Roullet, Jean‐Baptiste; Pearl, Phillip L.

    Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency

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    Wiley, 2023

    Published in: Developmental Medicine & Child Neurology, 65 (2023) 12, Seite 1596-1606

  17. Muñoz‐González, Carolina; Moreno‐Arribas, M Victoria; Martín‐Álvarez, Pedro J; Bartra‐Sebastian, Enric; Puig‐Pujol, Ana; García‐Cazorla, Joan; Pozo‐Bayón, Maria Ángeles

    Volatile and sensory characterization of Xarel.lo white wines

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    Wiley, 2011

    Published in: Flavour and Fragrance Journal, 26 (2011) 3, Seite 153-161

  18. López, Luis C.; Akman, Hasan O.; García-Cazorla, Ángeles; Dorado, Beatriz; Martí, Ramón; Nishino, Ichizo; Tadesse, Saba; Pizzorno, Giuseppe; Shungu, Dikoma; Bonilla, Eduardo; Tanji, Kurenai; Hirano, Michio

    Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

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    Oxford University Press (OUP), 2009

    Published in: Human Molecular Genetics, 18 (2009) 4, Seite 714-722

  19. Akman, Hasan O.; Dorado, Beatriz; López, Luis C.; García-Cazorla, Ángeles; Vilà, Maya R.; Tanabe, Lauren M.; Dauer, William T.; Bonilla, Eduardo; Tanji, Kurenai; Hirano, Michio

    Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

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    Oxford University Press (OUP), 2008

    Published in: Human Molecular Genetics, 17 (2008) 16, Seite 2433-2440

  20. Jung‐KC, Kunwar; Tristán‐Noguero, Alba; Altankhuyag, Altanchimeg; Piñol Belenguer, David; Prestegård, Karina S.; Fernandez‐Carasa, Irene; Colini Baldeschi, Arianna; Sigatulina Bondarenko, Maria; García‐Cazorla, Angeles; Consiglio, Antonella; Martinez, Aurora

    Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock‐in mouse model

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    Wiley, 2024

    Published in: Journal of Inherited Metabolic Disease, 47 (2024) 3, Seite 494-508