Fabry Disease | DADOSPDF

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Immunohistochemistry / Risk assessment / Heart Failure / Humans / Female / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Disease Progression / Risk Assessment / Cardiomyopathies / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Disease Progression / Risk Assessment / Cardiomyopathies

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Fabry’s Disease Cardiomyopathy

Adolescent / Echocardiography / Humans / Female / Male / Magnetic Resonance / Differential Diagnosis / Fabry Disease / Aged / Middle Aged / Adult / Myocardium / Public health systems and services research / Cardiomyopathies / Sensitivity and Specificity / Hypertrophic Cardiomyopathy / Glycosphingolipids / The American / Magnetic Resonance / Differential Diagnosis / Fabry Disease / Aged / Middle Aged / Adult / Myocardium / Public health systems and services research / Cardiomyopathies / Sensitivity and Specificity / Hypertrophic Cardiomyopathy / Glycosphingolipids / The American

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PODOCYTURIA AND FABRY DISEASE

Glomerular Diseases / Fabry Disease / Podocyte

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Echocardiographic Features of Genetic Diseases: Part 6. Complex Cardiovascular Defects

Genetics / Adolescent / Williams Syndrome / Down Syndrome / Echocardiography / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases

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Echocardiographic features of genetic diseases: Part 1. Cardiomyopathy

Genetics / Adolescent / Williams Syndrome / Down Syndrome / Echocardiography / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases

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Echocardiographic Features of Genetic Diseases: Part 4. Connective Tissue

Genetics / Adolescent / Williams Syndrome / Down Syndrome / Echocardiography / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases

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Fabry disease: a review

Family history / Heart Failure / Humans / Hemodialysis / Visual Impairment / Enzyme / Fabry Disease / Clinical Sciences / Chronic Renal Failure / Kidney Transplant / Enzyme Replacement Therapy / Enzyme / Fabry Disease / Clinical Sciences / Chronic Renal Failure / Kidney Transplant / Enzyme Replacement Therapy

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Fabry Disease: Preclinical Studies Demonstrate the Effectiveness of α-Galactosidase A Replacement in Enzyme-Deficient Mice

Electron Microscopy / Biological Sciences / Humans / Kidney / Mice / Female / Animals / Male / Skin / Enzyme / Fabry Disease / Isoenzymes / Molecular weight / Recombinant Proteins / Alpha-Galactosidase / The American / Isoelectric point / Female / Animals / Male / Skin / Enzyme / Fabry Disease / Isoenzymes / Molecular weight / Recombinant Proteins / Alpha-Galactosidase / The American / Isoelectric point

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Fabry’s Disease Cardiomyopathy

Adolescent / Echocardiography / Humans / Female / Male / Magnetic Resonance / Differential Diagnosis / Fabry Disease / Aged / Middle Aged / Adult / Myocardium / Public health systems and services research / Cardiomyopathies / Sensitivity and Specificity / Hypertrophic Cardiomyopathy / Glycosphingolipids / Magnetic Resonance / Differential Diagnosis / Fabry Disease / Aged / Middle Aged / Adult / Myocardium / Public health systems and services research / Cardiomyopathies / Sensitivity and Specificity / Hypertrophic Cardiomyopathy / Glycosphingolipids

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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Immunohistochemistry / Risk assessment / Heart Failure / Humans / Female / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Disease Progression / Risk Assessment / Cardiomyopathies / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Disease Progression / Risk Assessment / Cardiomyopathies

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Mutação de novo causadora de doença de Fabry em paciente do sexo feminino

Humans / Mutation / Female / Fabry Disease / Middle Aged

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Mutação de novo causadora de doença de Fabry em paciente do sexo feminino

Humans / Mutation / Female / Fabry Disease / Middle Aged

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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Immunohistochemistry / Risk assessment / Heart Failure / Humans / Female / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies

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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Immunohistochemistry / Risk assessment / Heart Failure / Humans / Female / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies

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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Immunohistochemistry / Risk assessment / Heart Failure / Humans / Female / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Left ventricular hypertrophy / Disease Progression / Risk Assessment / Cardiomyopathies

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Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry

Treatment Outcome / Humans / Female / Male / Fabry Disease / Clinical Sciences / Isoenzymes / Alpha-Galactosidase / Enzyme Replacement Therapy / immunoglobulin G / Clinical Sciences / Isoenzymes / Alpha-Galactosidase / Enzyme Replacement Therapy / immunoglobulin G

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