Pediatría
Servicio
Ángels
García Cazorla
Publicaciones en las que colabora con Ángels García Cazorla (21)
2024
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
2023
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Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
Pediatric Neurology, Vol. 144, pp. 11-15
2022
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Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
Developmental Medicine and Child Neurology, Vol. 64, Núm. 7, pp. 915-923
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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
2021
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Paradigmatic de novo grin1 variants recapitulate pathophysiological mechanisms underlying grin1‐related disorder clinical spectrum
International Journal of Molecular Sciences, Vol. 22, Núm. 23
2019
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Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Neurogenetics, Vol. 20, Núm. 2, pp. 73-82
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Muscle involvement in a large cohort of pediatric patients with genetic diagnosis of mitochondrial disease
Journal of Clinical Medicine, Vol. 8, Núm. 1
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España
Anales de Pediatria, Vol. 76, Núm. 3, pp. 133-139
2011
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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