ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
MARÍA TERESA
GARCÍA SILVA
Chercheuse jusqu' 2019
Publications dans lesquelles il/elle collabore avec MARÍA TERESA GARCÍA SILVA (39)
2022
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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, Vol. 63, Núm. 2, pp. 146-161
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Genetic diagnosis of basal ganglia disease in childhood
Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752
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Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients
Nutrients, Vol. 14, Núm. 13
2021
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2020
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Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid
Revista espanola de salud publica, Vol. 94
2019
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
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Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562
2018
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Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers
JIMD Reports (Springer), pp. 63-74
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Neuroradiological Features of Six Patients with Propionic Acidemia
Journal of Pediatric Neurology, Vol. 16, Núm. 6, pp. 390-396
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Protocolo de diagnóstico y tratamiento de las enfermedades mitocondriales
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 181-204
2017
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Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome
Journal of Inherited Metabolic Disease, Vol. 40, Núm. 5, pp. 751-752
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Myopathic mtDNA depletion syndrome due to mutation in TK2 Gene
Pediatric and Developmental Pathology, Vol. 20, Núm. 5, pp. 416-420
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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
Annals of Neurology, Vol. 82, Núm. 6, pp. 1004-1015
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The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome
Clinical Genetics, Vol. 91, Núm. 1, pp. 46-53
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Unidad de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias. Servicio de Pediatría. Hospital Universitario 12 de Octubre
Revista Espanola de Pediatria, Vol. 73, Núm. 1, pp. 41-45
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Unidad de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias. Servivio de Pediatría, Hospital Universitario 12 de Octubre
Revista española de pediatría: clínica e investigación, Vol. 73, Núm. 1, pp. 41-45
2016
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Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry
Clinical Nutrition, Vol. 35, Núm. 6, pp. 1484-1489
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First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
Neurogenetics, Vol. 17, Núm. 1, pp. 51-56
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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
Neurogenetics, Vol. 17, Núm. 4, pp. 259-263
2014
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Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
Orphanet journal of rare diseases, Vol. 9, pp. 217