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Inborn errors of metabolism in man
International Symposium on Inborn Errors of Metabolism in Man 1977 Tēl-Āvîv +1 more
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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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Movement Disorders in Treatable Inborn Errors of Metabolism
Movement Disorders, 2019 There are several hundred single-gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non-neurological and neurological manifestations, commonly with
Darius Ebrahimi-Fakhari +1 more
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The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee [PDF]
Journal of Clinical Immunology, 2021 The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020.
Stuart G Tangye +2 more
exaly +2 more sources
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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
openaire +3 more sources
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee [PDF]
Journal of Clinical Immunology, 2022 We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 ...
Stuart G Tangye +2 more
exaly +2 more sources
COVID-19 and Inborn Errors of Immunity
Physiology, 2022 Inborn errors of immunity (IEI) are a heterogeneous group of disorders affecting immune host defense and immunoregulation. Considering the predisposition to develop severe and chronic infections, it is crucial to understand the clinical evolution of ...
Ottavia M Delmonte +2 more
exaly +2 more sources
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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Clinics in Perinatology, 2015
Inborn errors of metabolism (IEM) are individually rare but collectively common. Approximately 25% of IEMs can have manifestations in the neonatal period. Neonates with IEM are usually healthy at birth; however, in hours to days after birth they can develop nonspecific signs that are common to several other neonatal conditions. Therefore, maintaining a
openaire +2 more sources
Inborn errors of metabolism (IEM) are individually rare but collectively common. Approximately 25% of IEMs can have manifestations in the neonatal period. Neonates with IEM are usually healthy at birth; however, in hours to days after birth they can develop nonspecific signs that are common to several other neonatal conditions. Therefore, maintaining a
openaire +2 more sources