Pediatrics
Service
Publications by the researcher in collaboration with Alvaro Hermida Ameijeiras (11)
2024
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Assessing the relationship between lipoprotein(a) levels and blood pressure among hypertensive patients beyond conventional measures. An observational study
Scientific Reports, Vol. 14, Núm. 1
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Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers
Translational Research, Vol. 269, pp. 47-63
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Nutrient Status and Intakes of Adults with Phenylketonuria
Nutrients , Vol. 16, Núm. 16
2023
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Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
Journal of Clinical Medicine, Vol. 12, Núm. 7
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The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria
Medicina Clinica, Vol. 160, Núm. 9, pp. 385-391
2022
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Journal of Clinical Medicine, Vol. 11, Núm. 10
2021
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Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome
International Journal of Molecular Sciences, Vol. 22, Núm. 24
2020
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LipoDDx: A mobile application for identification of rare lipodystrophy syndromes
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
2018
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Transición desde la asistencia pediátrica a la adulta en pacientes con mucopolisacaridosis
Revista Clinica Espanola, Vol. 218, Núm. 1, pp. 17-21
2017
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Arterial stiffness assessment in patients with phenylketonuria
Medicine (United States), Vol. 96, Núm. 51
2016
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Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso
Medicina Clinica, Vol. 147, Núm. 11, pp. 506.e1-506.e7