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TERAPIAS EMERGENTES. ¿NUEVAS SOLUCIONES PARA VIEJOS PROBLEMAS?

Galicia-clinica, 2023-05, Vol.84 (1), p.2

HERMIDA AMEIJEIRAS, ALVARO

2023

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Special Issue "Diagnosis and Treatment of Rare Diseases"

Journal of clinical medicine, 2024-05, Vol.13 (9), p.2574

Hermida-Ameijeiras, Álvaro

2024

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Health-related quality of life in a european sample of adults with early-treated classical PKU

Orphanet journal of rare diseases, 2023-09, Vol.18 (1), p.1-12, Article 300

2023

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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, 2024-06, Vol.14 (1), p.14433-11, Article 14433

2024

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Assessment of oxidative stress markers in elderly patients with SARS-CoV-2 infection and potential prognostic implications in the medium and long term

PloS one, 2022-10, Vol.17 (10), p.e0268871-e0268871

2022

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Copper Overload Increased Rat Striatal Levels of Both Dopamine and Its Main Metabolite Homovanillic Acid in Extracellular Fluid

International journal of molecular sciences, 2024-08, Vol.25 (15), p.8309

2024

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Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome

International journal of molecular sciences, 2021-12, Vol.22 (24), p.13484

2021

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Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease

International journal of molecular sciences, 2024-04, Vol.25 (8), p.4299

2024

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LipoDDx: a mobile application for identification of rare lipodystrophy syndromes

Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.81-81, Article 81

2020

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Clinical characteristics and prognosis of heart failure in elderly patients

Revista portuguesa de cardiologia, 2015-07, Vol.34 (7-8), p.457-463

2015

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Should we suspect primary aldosteronism in patients with hypokalaemic rhabdomyolysis? A systematic review

Frontiers in endocrinology (Lausanne), 2023-09, Vol.14, p.1257078-1257078

2023

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Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease

Journal of clinical medicine, 2023-03, Vol.12 (7), p.2596

2023

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Effect of an intensive tobacco cessation program on the smoker narrative: A content analysis and grounded theory

Tobacco induced diseases, 2024-02, Vol.22 (February), p.1-11

2024

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Assessment of Oxidative Stress Markers in Hypertensive Patients under the Use of Renin-Angiotensin-Aldosterone Blockers

Antioxidants, 2023-03, Vol.12 (4), p.802

2023

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Correlation between Blunted Nocturnal Decrease in Diastolic Blood Pressure and Oxidative Stress: An Observational Study

Antioxidants, 2022-12, Vol.11 (12), p.2430

2022

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Implications of Inflammatory and Oxidative Stress Markers in the Attenuation of Nocturnal Blood Pressure Dipping

Journal of clinical medicine, 2023-02, Vol.12 (4), p.1643

2023

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Are Differences in Inflammatory Markers between Patients with and without Hypertension-Mediated Organ Damage Influenced by Circadian Blood Pressure Abnormalities?

Journal of clinical medicine, 2022-02, Vol.11 (5), p.1252

2022

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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

Journal of clinical medicine, 2022-05, Vol.11 (10), p.2750

2022

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Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant

Journal of clinical medicine, 2021-04, Vol.10 (7), p.1497

2021

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Celia's Encephalopathy ( BSCL2 -Gene-Related): Current Understanding

Journal of clinical medicine, 2021-04, Vol.10 (7), p.1435

2021

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Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene

Journal of clinical medicine, 2021-03, Vol.10 (6), p.1259

2021

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Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement

Medicina clinica, 2016-12, Vol.147 (11), p.506.e1

2016

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Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis

Molecular genetics and metabolism, 2017-06, Vol.121 (2), p.138-149

2017

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Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers

Translational research : the journal of laboratory and clinical medicine, 2024-07, Vol.269, p.47-63

2024

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Familial partial lipodystrophy syndromes

La Presse médicale (1983), 2021-11, Vol.50 (3), p.104071-104071, Article 104071

2021

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TERAPIAS EMERGENTES. ¿NUEVAS SOLUCIONES PARA VIEJOS PROBLEMAS?

Special Issue "Diagnosis and Treatment of Rare Diseases"

Health-related quality of life in a european sample of adults with early-treated classical PKU

Assessing the relationship between lipoprotein(a) levels and blood pressure among hypertensive patients beyond conventional measures. An observational study

Assessment of oxidative stress markers in elderly patients with SARS-CoV-2 infection and potential prognostic implications in the medium and long term

Copper Overload Increased Rat Striatal Levels of Both Dopamine and Its Main Metabolite Homovanillic Acid in Extracellular Fluid

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease

LipoDDx: a mobile application for identification of rare lipodystrophy syndromes

Clinical characteristics and prognosis of heart failure in elderly patients

Should we suspect primary aldosteronism in patients with hypokalaemic rhabdomyolysis? A systematic review

Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease

Effect of an intensive tobacco cessation program on the smoker narrative: A content analysis and grounded theory

Assessment of Oxidative Stress Markers in Hypertensive Patients under the Use of Renin-Angiotensin-Aldosterone Blockers

Correlation between Blunted Nocturnal Decrease in Diastolic Blood Pressure and Oxidative Stress: An Observational Study

Implications of Inflammatory and Oxidative Stress Markers in the Attenuation of Nocturnal Blood Pressure Dipping

Are Differences in Inflammatory Markers between Patients with and without Hypertension-Mediated Organ Damage Influenced by Circadian Blood Pressure Abnormalities?

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant

Celia's Encephalopathy ( BSCL2 -Gene-Related): Current Understanding

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene

Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement

Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis

Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers

Familial partial lipodystrophy syndromes

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