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Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2459, doi. 10.1002/ajmg.a.61357
By:
- Pillai, Nishitha R.;
- Yubero, Delia;
- Shayota, Brian J.;
- Oyarzábal, Alfonso;
- Ghosh, Rajarshi;
- Sun, Qin;
- Azamian, Mahshid S.;
- Arjona, Cesar;
- Brandi, Núria;
- Palau, Francesc;
- Lalani, Seema R.;
- Artuch, Rafael;
- García‐Cazorla, Angeles;
- Scott, Daryl A.
Publication type:
Article
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.
Published in:
2018
By:
- Chakrapani, Anupam;
- Valayannopoulos, Vassili;
- Segarra, Nuria García;
- Del Toro, Mireia;
- Donati, Maria Alice;
- García-Cazorla, Angeles;
- González, María Julieta;
- Plisson, Celine;
- Giordano, Vincenzo
Publication type:
journal article
Clinical and molecular genetic features of ARC syndrome.
Published in:
Human Genetics, 2006, v. 120, n. 3, p. 396, doi. 10.1007/s00439-006-0232-z
By:
- Gissen, Paula;
- Tee, Louise;
- Johnson, Colin A.;
- Genin, Emmanuelle;
- Caliebe, Almuth;
- Chitayat, David;
- Clericuzio, Carol;
- Denecke, Jonas;
- Di Rocco, Maja;
- Fischler, Björn;
- FitzPatrick, David;
- García-Cazorla, Angeles;
- Guyot, Delphine;
- Jacquemont, Sebastien;
- Koletzko, Sibylle;
- Leheup, Bruno;
- Mandel, Hanna;
- Sanseverino, Maria Teresa Viera;
- Houwen, Roderick H. J.;
- McKiernan, Patrick J.
Publication type:
Article
Reply to He et al.
Published in:
2011
By:
- García-Villoria, Judit;
- Gort, Laura;
- Madrigal, Irene;
- Fons, Carme;
- Fernández, Cristina;
- Navarro-Sastre, Aleix;
- Mila, M.;
- Briones, Paz;
- García-Cazorla, M. Angeles;
- Campistol, Jaume;
- Ribes, Antonia
Publication type:
Letter
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1353, doi. 10.1038/ejhg.2010.118
By:
- 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
Publication type:
Article
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02793-4
By:
- Pajares, Sonia;
- Arranz, Jose Antonio;
- Ormazabal, Aida;
- Toro, Mireia Del;
- García-Cazorla, Ángeles;
- Navarro-Sastre, Aleix;
- López, Rosa María;
- Meavilla, Silvia María;
- de los Santos, Mariela Mercedes;
- García-Volpe, Camila;
- de Aledo-Castillo, Jose Manuel González;
- Argudo, Ana;
- Marín, Jose Luís;
- Carnicer, Clara;
- Artuch, Rafael;
- Tort, Frederic;
- Gort, Laura;
- Fernández, Rosa;
- García-Villoria, Judit;
- Ribes, Antonia
Publication type:
Article
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Published in:
2021
By:
- Pajares, Sonia;
- Arranz, Jose Antonio;
- Ormazabal, Aida;
- Del Toro, Mireia;
- García-Cazorla, Ángeles;
- Navarro-Sastre, Aleix;
- López, Rosa María;
- Meavilla, Silvia María;
- de los Santos, Mariela Mercedes;
- García-Volpe, Camila;
- de Aledo-Castillo, Jose Manuel González;
- Argudo, Ana;
- Marín, Jose Luís;
- Carnicer, Clara;
- Artuch, Rafael;
- Tort, Frederic;
- Gort, Laura;
- Fernández, Rosa;
- García-Villoria, Judit;
- Ribes, Antonia
Publication type:
journal article
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Published in:
2020
By:
- Opladen, Thomas;
- López-Laso, Eduardo;
- Cortès-Saladelafont, Elisenda;
- Pearson, Toni S.;
- Sivri, H. Serap;
- Yildiz, Yilmaz;
- Assmann, Birgit;
- Kurian, Manju A.;
- Leuzzi, Vincenzo;
- Heales, Simon;
- Pope, Simon;
- Porta, Francesco;
- García-Cazorla, Angeles;
- Honzík, Tomáš;
- Pons, Roser;
- Regal, Luc;
- Goez, Helly;
- Artuch, Rafael;
- Hoffmann, Georg F.;
- Horvath, Gabriella
Publication type:
journal article
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Published in:
2020
By:
- Opladen, Thomas;
- López-Laso, Eduardo;
- Cortès-Saladelafont, Elisenda;
- Pearson, Toni S.;
- Sivri, H. Serap;
- Yildiz, Yilmaz;
- Assmann, Birgit;
- Kurian, Manju A.;
- Leuzzi, Vincenzo;
- Heales, Simon;
- Pope, Simon;
- Porta, Francesco;
- García-Cazorla, Angeles;
- Honzík, Tomáš;
- Pons, Roser;
- Regal, Luc;
- Goez, Helly;
- Artuch, Rafael;
- Hoffmann, Georg F.;
- Horvath, Gabriella
Publication type:
journal article
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Published in:
Annals of Neurology, 2022, v. 92, n. 2, p. 292, doi. 10.1002/ana.26423
By:
- Hübschmann, Oya Kuseyri;
- Juliá‐Palacios, Natalia Alexandra;
- Olivella, Mireia;
- Guder, Philipp;
- Zafeiriou, Dimitrios I.;
- Horvath, Gabriella;
- Kulhánek, Jan;
- Pearson, Toni S.;
- Kuster, Alice;
- Cortès‐Saladelafont, Elisenda;
- Ibáñez, Salvador;
- García‐Jiménez, Maria Concepción;
- Honzík, Tomáš;
- Santer, René;
- Jeltsch, Kathrin;
- Garbade, Sven F.;
- Hoffmann, Georg F.;
- Opladen, Thomas;
- García‐Cazorla, Ángeles
Publication type:
Article
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Published in:
Developmental Medicine & Child Neurology, 2023, v. 65, n. 12, p. 1596, doi. 10.1111/dmcn.15659
By:
- Tokatly Latzer, Itay;
- Hanson, Ellen;
- Bertoldi, Mariarita;
- García‐Cazorla, Àngeles;
- Tsuboyama, Melissa;
- MacMullin, Paul;
- Rotenberg, Alexander;
- Roullet, Jean‐Baptiste;
- Pearl, Phillip L.;
- Gibson, K Michael;
- Arning, Erland;
- DiBacco, Melissa L;
- Aygun, Deniz;
- Sachee, Daniyal;
- Lee, Henry H C;
- Papadelis, Christos;
- Opladen, Thomas;
- Jeltsch, Kathrin;
- Warfield, Simon;
- Hoffman, Carolyn
Publication type:
Article
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock‐in mouse model.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 494, doi. 10.1002/jimd.12702
By:
- 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
Publication type:
Article
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 431, doi. 10.1002/jimd.12658
By:
- Yıldız, Yılmaz;
- Kuseyri Hübschmann, Oya;
- Akgöz Karaosmanoğlu, Ayça;
- Manti, Filippo;
- Karaca, Meryem;
- Schwartz, Ida Vanessa D.;
- Pons, Roser;
- López‐Laso, Eduardo;
- Palacios, Natalia Alexandra Julia;
- Porta, Francesco;
- Kavecan, Ivana;
- Balcı, Mehmet Cihan;
- Dy‐Hollins, Marisela E.;
- Wong, Suet‐Na;
- Oppebøen, Mari;
- Medeiros, Leonardo Simão;
- de Paula, Leila Cristina Pedroso;
- García‐Cazorla, Angeles;
- Hoffmann, Georg F.;
- Jeltsch, Kathrin
Publication type:
Article
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 66, doi. 10.1002/jimd.12554
By:
- Peters, Tessa M. A.;
- Merx, Jona;
- Kooijman, Pieter C.;
- Noga, Marek;
- de Boer, Siebolt;
- van Gemert, Loes A.;
- Salden, Guido;
- Engelke, Udo F. H.;
- Lefeber, Dirk J.;
- van Outersterp, Rianne E.;
- Berden, Giel;
- Boltje, Thomas J.;
- Artuch, Rafael;
- Pías‐Peleteiro, Leticia;
- García‐Cazorla, Ángeles;
- Barić, Ivo;
- Thöny, Beat;
- Oomens, Jos;
- Martens, Jonathan;
- Wevers, Ron A.
Publication type:
Article
Choosing Strategies to Deal with Artifactual EEG Data in Children with Cognitive Impairment.
Published in:
Entropy, 2021, v. 23, n. 8, p. 1030, doi. 10.3390/e23081030
By:
- Tost, Ana;
- Migliorelli, Carolina;
- Bachiller, Alejandro;
- Medina-Rivera, Inés;
- Romero, Sergio;
- García-Cazorla, Ángeles;
- Mañanas, Miguel A.
Publication type:
Article
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 4, p. 714, doi. 10.1093/hmg/ddn401
By:
- 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
Publication type:
Article
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 16, p. 2433, doi. 10.1093/hmg/ddn143
By:
- 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
Publication type:
Article
Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl.
Published in:
Movement Disorders, 2003, v. 18, n. 9, p. 1076, doi. 10.1002/mds.10442
By:
- Fernández-Álvarez, Emilio;
- García-Cazorla, Angeles;
- Sans, Anna;
- Boix, Cristina;
- Vilaseca, María Antonia;
- Busquets, Christianne;
- Ribes, Antonia
Publication type:
Article
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.
Published in:
Nutrients, 2023, v. 15, n. 15, p. 3475, doi. 10.3390/nu15153475
By:
- Garcia-Arenas, Dolores;
- Barrau-Martinez, Blanca;
- Gonzalez-Rodriguez, Arnau;
- Llorach, Rafael;
- Campistol-Plana, Jaume;
- García-Cazorla, Angeles;
- Ormazabal, Aida;
- Urpi-Sarda, Mireia
Publication type:
Article

Found: 19

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

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

Clinical and molecular genetic features of ARC syndrome.

Reply to He et al.

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

Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

Implementation of second-tier tests in newborn screening for the detection of vitamin B<sub>12</sub> related acquired and genetic disorders: results on 258,637 newborns.

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies.

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

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

Tetrahydrobiopterin (BH<sub>4</sub>) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock‐in mouse model.

Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.

Choosing Strategies to Deal with Artifactual EEG Data in Children with Cognitive Impairment.

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

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

Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl.

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.