Results 11 to 20 of about 618,834 (263)
Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories [PDF]
Annual Review of Pathology: Mechanisms of Disease, 2021 It was first demonstrated in the late nineteenth century that human deaths from fever were typically due to infections. As the germ theory gained ground, it replaced the old, unproven theory that deaths from fever reflected a weak personal or even familial constitution.
Jean-Laurent, Casanova, Laurent, Abel
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Antibodies, 2023 Elevated immunoglobulin E (IgE) is a hallmark of allergic diseases. However, high IgE levels also occur in a number of other infectious and noninfectious diseases.
Polina Kostova +7 more
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Metabolism as a complex genetic trait, a systems biology approach: Implications for inborn errors of metabolism and clinical diseases [PDF]
Journal of Inherited Metabolic Disease, 2008 SummaryMultifactorial and polygenic inheritance is commonly recognized for many genetic conditions including physical anomalies, complex congenital malformation syndromes, and even common disorders such as adult‐onset diabetes mellitus. It has only recently been suggested as a mechanism for inheritance in inborn errors of metabolism.
J. Vockley
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Current genetic diagnostics in inborn errors of immunity
Frontiers in PediatricsNew technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg +7 more
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Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs
The Journal of Clinical Investigation, 2023 Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
Jean-Laurent Casanova, Mark S. Anderson
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Human medicines European public assessment report (EPAR): Respreeza, alpha1-proteinase inhibitor (human), Genetic Diseases, Inborn,Lung Diseases, Date of authorisation: 20/08/2015, Revision: 6, Status: Authorised [PDF]
Case Medical Research, 2019 openaire +2 more sources
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population [PDF]
Frontiers in Genetics, 2021 Inborn errors of metabolism (IEMs) often causing progressive and irreversible neurological damage, physical and intellectual development lag or even death, and serious harm to the family and society. The screening of neonatal IEMs by tandem mass spectrometry (MS/MS) is an effective method for early diagnosis and presymptomatic treatment to prevent ...
Tan, Jianqiang +10 more
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World Journal of Pediatrics, 2023 Background Newborn screening (NBS) is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases.
Ru-lai Yang +16 more
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Molecular Genetics & Genomic Medicine, 2023 The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China.
Shuai Men +8 more
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International Journal of Neonatal Screening, 2022 The Recommended Uniform Screening Panel (RUSP) contains more than forty metabolic disorders recommended for inclusion in universal newborn screening (NBS). Tandem-mass-spectrometry-based screening of metabolic analytes in dried blood spot samples identifies most affected newborns, along with a number of false positive results. Due to their influence on
Gang Peng +3 more
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