Publicacións nas que colabora con Ángels García Cazorla (16)

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

2022

  1. The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

    Clinical Genetics, Vol. 102, Núm. 1, pp. 40-55

2019

  1. Betaine anhydrous in homocystinuria: Results from the RoCH registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106

2018

  1. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)

    Journal of Inherited Metabolic Disease

  2. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)

    Journal of Inherited Metabolic Disease

2017

  1. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

    Journal of Inherited Metabolic Disease, Vol. 40, Núm. 1, pp. 21-48

  2. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

    Human Mutation, Vol. 38, Núm. 6, pp. 678-691

2016

  1. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

    Journal of Inherited Metabolic Disease, Vol. 39, Núm. 5, pp. 661-672

  2. Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

2015

  1. Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

    European Journal of Paediatric Neurology, Vol. 19, Núm. 6, pp. 652-659

  2. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1059-1074

2012

  1. Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 76, Núm. 3, pp. 133-139

  2. Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España

    Anales de Pediatria, Vol. 76, Núm. 3, pp. 133-139

2011

  1. Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

    Medicina Clinica, Vol. 137, Núm. 11, pp. 500-503

2009

  1. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

    Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566