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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.
Jose Luis Franco +2 more
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Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity
Journal of Allergy and Clinical Immunology, 2021David H. McDermott +2 more
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Extended Risk of Mortality in Children with Inborn Errors of Metabolism: A Longitudinal Cohort Study
Journal of Pediatrics, 2023Nathalie Auger +2 more
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Inborn errors of metabolism and expanded newborn screening: review and update
Critical Reviews in Clinical Laboratory Sciences, 2013Han-Chih Hencher Lee +2 more
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A proposed nosology of inborn errors of metabolism
Genetics in Medicine, 2019Carlos R Ferreira +2 more
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