Results 301 to 310 of about 120,158 (339)
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Medical Clinics of North America, 2023
Inborn errors of immunity occur in 1 in 1000 to 1 in 5000 individuals and are characterized by immune deficiency and immune dysregulation. The primary care provider (PCP) should be familiar with key features of these diagnoses including recurrent and/or severe infections, hyperinflammation, malignancy, and autoimmunity and have a low threshold to refer
Carolyn H, Baloh, Hey, Chong
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Inborn errors of immunity occur in 1 in 1000 to 1 in 5000 individuals and are characterized by immune deficiency and immune dysregulation. The primary care provider (PCP) should be familiar with key features of these diagnoses including recurrent and/or severe infections, hyperinflammation, malignancy, and autoimmunity and have a low threshold to refer
Carolyn H, Baloh, Hey, Chong
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2019
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway.
Ferreira, Carlos R. +1 more
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Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway.
Ferreira, Carlos R. +1 more
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Annals of Neurology, 1982
AbstractInborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult‐onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay‐Sachs disease, metachromatic leukodystrophy, Gaucher disease, and Maroteaux‐Lamy disease.
E H, Kolodny, W J, Cable
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AbstractInborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult‐onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay‐Sachs disease, metachromatic leukodystrophy, Gaucher disease, and Maroteaux‐Lamy disease.
E H, Kolodny, W J, Cable
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Pediatrics, 1987
To the Editor.— We read with great interest the review by Dr Burton on inborn errors of metabolism.1 These myriad disorders frequently present with clinical manifestations that are associated with a variety of more common neonatal diseases.
T E, Wiswell, M E, Weisse
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To the Editor.— We read with great interest the review by Dr Burton on inborn errors of metabolism.1 These myriad disorders frequently present with clinical manifestations that are associated with a variety of more common neonatal diseases.
T E, Wiswell, M E, Weisse
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Pediatric Annals, 1990
Because of our knowledge of their biochemical bases, the inborn errors of their biochemical bases, the inborn errors of metabolism have been especially amenable to specifically designed modes of therapy.
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Because of our knowledge of their biochemical bases, the inborn errors of their biochemical bases, the inborn errors of metabolism have been especially amenable to specifically designed modes of therapy.
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Verhandlungen der Deutschen Gesellschaft fur Pathologie, 1992
Primary immunodeficiency syndromes may be seen as "experiments of nature", giving insights into the organization and function of the human immune system. The principal categories of primary immunodeficiency syndromes: severe combined immunodeficiency, agammaglobulinemia and isolated T-cell defects (e.g.
H K, Müller-Hermelink, J, Müller
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Primary immunodeficiency syndromes may be seen as "experiments of nature", giving insights into the organization and function of the human immune system. The principal categories of primary immunodeficiency syndromes: severe combined immunodeficiency, agammaglobulinemia and isolated T-cell defects (e.g.
H K, Müller-Hermelink, J, Müller
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Pediatrics In Review, 1980
Around the turn of the century Garrard established the concept of an inborn error of metabolism using his study on alcaptonuria to exemplify his hypothesis that a considerable number of metabolic disorders with clearly defined clinical, pathologic, and biochemical abnormalities arise because an enzyme governing a single metabolic step is either reduced
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Around the turn of the century Garrard established the concept of an inborn error of metabolism using his study on alcaptonuria to exemplify his hypothesis that a considerable number of metabolic disorders with clearly defined clinical, pathologic, and biochemical abnormalities arise because an enzyme governing a single metabolic step is either reduced
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Carnitine metabolism and inborn errors
Journal of Inherited Metabolic Disease, 1984AbstractCurrent knowledge of the metabolic role, biosynthesis, cellular uptake, excretion and turnover of carnitine is reviewed. The clinical spectrum and possible aetiology of the primary muscle and primary systemic carnitine deficiency syndromes are considered and the various genetic defects of intermediary metabolism which can give rise to secondary
A G, Engel, C J, Rebouche
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2015
An argument that nativism is true and important but mysterious, examining the particular case of ideas of sensible qualities. In this book, Colin McGinn presents a concise, clear, and compelling argument that the origins of knowledge are innate—that nativism, not empiricism, is correct in its theory of how concepts are acquired.
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An argument that nativism is true and important but mysterious, examining the particular case of ideas of sensible qualities. In this book, Colin McGinn presents a concise, clear, and compelling argument that the origins of knowledge are innate—that nativism, not empiricism, is correct in its theory of how concepts are acquired.
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