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CRISPR-based approaches for studying inborn errors of immunity. [PDF]
Clin Transl MedLi JH.
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A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism
Bender A +11 more
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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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The Endocrinologist, 1966
This volume replaces and expands five-fold the "Appendix on Laboratory Methods" which concluded the single volume of the first edition of Hsia's monograph. The tests described number 123. They are, with few exceptions, of the organic chemical variety and for the most part quantitative in nature.
Victor H. Auerbach, Angelo M. DiGeorge
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This volume replaces and expands five-fold the "Appendix on Laboratory Methods" which concluded the single volume of the first edition of Hsia's monograph. The tests described number 123. They are, with few exceptions, of the organic chemical variety and for the most part quantitative in nature.
Victor H. Auerbach, Angelo M. DiGeorge
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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.
William J. L. Cable, Edwin H. Kolodny
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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.
William J. L. Cable, Edwin H. Kolodny
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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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Inborn Errors of Metabolism [PDF]
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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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.
Carlos Ferreira +2 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.
Carlos Ferreira +2 more
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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
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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
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