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Gaucher Disease
Gaucher Disease
Tratamento Da Doença De Gaucher: Um Consenso Brasileiro
Gaucher Disease
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
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
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
Blood spot versus plasma chitotriosidase: A systematic clinical comparison
Clinical Biochemistry / Humans / ROC Curve / Substrate Specificity / Reproducibility of Results / Gaucher Disease
The Glucocerobrosidase E326K Variant Predisposes to Parkinson\'s Disease, But Does Not Cause Gaucher\'s Disease
Genetics / Parkinson's Disease / Gaucher Disease
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