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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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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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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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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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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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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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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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Effects of (−)-nicotine and (−)-cotinine on 6-hydroxydopamine-induced oxidative stress and neurotoxicity: relevance for Parkinson’s disease

Biochemical pharmacology, 2002-07, Vol.64 (1), p.125-135

2002

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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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Autoxidation and MAO-mediated metabolism of dopamine as a potential cause of oxidative stress: role of ferrous and ferric ions

Neurochemistry international, 2004-07, Vol.45 (1), p.103-116

2004

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Autoxidation and neurotoxicity of 6-Hydroxydopamine in the presence of some antioxidants : Potential implication in relation to the pathogenesis of Parkinson's disease

Journal of neurochemistry, 2000-04, Vol.74 (4), p.1605-1612

2000

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Efectividad de los programas de cesación tabáquica en fumadores de tabaco de liar en Galicia

Revista española de salud pública, 2021 (95)

2021

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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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Study on the ability of 1,2,3,4-tetrahydropapaveroline to cause oxidative stress: Mechanisms and potential implications in relation to parkinson's disease

Journal of biochemical and molecular toxicology, 2006-10, Vol.20 (5), p.209-220

2006

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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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Effects of aluminum and zinc on the oxidative stress caused by 6-hydroxydopamine autoxidation: relevance for the pathogenesis of Parkinson’s disease

Biochimica et biophysica acta, 2002-03, Vol.1586 (2), p.155-168

2002

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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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Special Issue "Diagnosis and Treatment of Rare Diseases"

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

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

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

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

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

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

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

Effects of (−)-nicotine and (−)-cotinine on 6-hydroxydopamine-induced oxidative stress and neurotoxicity: relevance for Parkinson’s disease

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

Familial partial lipodystrophy syndromes

Autoxidation and MAO-mediated metabolism of dopamine as a potential cause of oxidative stress: role of ferrous and ferric ions

Autoxidation and neurotoxicity of 6-Hydroxydopamine in the presence of some antioxidants : Potential implication in relation to the pathogenesis of Parkinson's disease

Efectividad de los programas de cesación tabáquica en fumadores de tabaco de liar en Galicia

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

Study on the ability of 1,2,3,4-tetrahydropapaveroline to cause oxidative stress: Mechanisms and potential implications in relation to parkinson's disease

Clinical characteristics and prognosis of heart failure in elderly patients

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

Effects of aluminum and zinc on the oxidative stress caused by 6-hydroxydopamine autoxidation: relevance for the pathogenesis of Parkinson’s disease

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

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