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ELENA
MARTÍN HERNÁNDEZ
Profesora asociada de Ciencias de la Salud
Publications (91) Publications de ELENA MARTÍN HERNÁNDEZ
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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Effectiveness and safety of the treatment of lysosomal deposit diseases: Analysis of 22 patients
Medicina Clinica, Vol. 159, Núm. 8, pp. 380-384
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First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL
Human Mutation, Vol. 43, Núm. 10, pp. 1361-1367
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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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Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
International Journal of Molecular Sciences, Vol. 23, Núm. 21
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Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases
Journal of Clinical Medicine, Vol. 11, Núm. 10
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Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns
Journal of Pediatric Endocrinology and Metabolism, Vol. 35, Núm. 10, pp. 1223-1231
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Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients
Nutrients, Vol. 14, Núm. 13
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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
2021
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Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
Molecular Genetics and Metabolism, Vol. 133, Núm. 2, pp. 201-210
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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
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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase
Brain, Vol. 144, Núm. 9, pp. 2722-2731
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Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disease Type C
Journal of pediatric hematology/oncology, Vol. 43, Núm. 8, pp. e1238-e1240
2020
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A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
Journal of Genetics, Vol. 99, Núm. 1
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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
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MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia
American Journal of Medical Genetics, Part A, Vol. 182, Núm. 6, pp. 1483-1490
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Perioperative management of children with urea cycle disorders
Paediatric Anaesthesia, Vol. 30, Núm. 7, pp. 780-791
2019
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A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
European Journal of Human Genetics, Vol. 27, Núm. 9, pp. 1369-1378
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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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Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303