Leticia Diana
Pías Peleteiro
Publicacións (15) Publicacións de Leticia Diana Pías Peleteiro
2023
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Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit
Journal of Inherited Metabolic Disease, Vol. 46, Núm. 1, pp. 66-75
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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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
International Journal of Molecular Sciences, Vol. 23, Núm. 19
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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
2020
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Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study
Neurology, Vol. 95, Núm. 21, pp. E2866-E2879
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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 726-736
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The impact of gender, puberty, and pregnancy in patients with POLG disease
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 2019-2025
2019
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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
2016
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HaNDL syndrome in a 14-year-old girl
BMJ Case Reports, Vol. 2016
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Reply
Revista de Neurologia
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Tropical spastic paraparesis viewed from an Iberian context. Reply
Revista de neurologia
2015
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Delusional parasitosis associated to mild cognitive impairment of vascular causation. Good response to low doses of quetiapine
Revista de Neurologia
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Tropical spastic paraparesis in a non tropical region
Revista de Neurologia, Vol. 61, Núm. 8, pp. 357-362
2013
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Dr Google: What about the human papillomavirus vaccine?
Human Vaccines and Immunotherapeutics, Vol. 9, Núm. 8, pp. 1712-1719
2011
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Tos seca y estridor debidos exclusivamente a acalasia esofágica
Anales de Pediatria