Inborn errors of metabolism

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

Hipofosfatasia: nuevas perspectivas terapéuticas

Genetics of complex disease / Humans / Inborn errors of metabolism / Parathyroid Hormone / Alkaline phosphatase / Medicina Clinica / Enzyme Replacement Therapy / Medicina Clinica / Enzyme Replacement Therapy

Trimetilaminuria: el síndrome de olor a pescado

Humans / Female / Inborn errors of metabolism / Odors / Adult / Metabolic Disorder

Síndrome Metabólica em Diabéticos tipo 2 em Insulinoterapia: Fatores associados e Qualidade de Vida

Pharmacology / Pharmacy / Metabolism / Diabetes / Metabolomics / Pharmaceutical Technology / Clinical Pharmacology / Diabetes Mellitus and Its Complications / Endocrinology & Metabolism / Metabolic syndrome / Pharmaceutics / Clinical Pharmacy / Hypertension / Pharmaceutical Sciences / Inborn errors of metabolism / Clinical Pharmacy Practice / Pharmaceutical Technology / Clinical Pharmacology / Diabetes Mellitus and Its Complications / Endocrinology & Metabolism / Metabolic syndrome / Pharmaceutics / Clinical Pharmacy / Hypertension / Pharmaceutical Sciences / Inborn errors of metabolism / Clinical Pharmacy Practice

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