Evolution of Gene Therapy for Inborn Errors of Immunity.
Sign Up to like & getrecommendations! Published in 2024 at "JAMA pediatrics"
DOI: 10.1001/jamapediatrics.2024.1116
Abstract: This Viewpoint reviews the history and current state of gene therapy for inborn errors of immunity. read more here.
Keywords: inborn errors; therapy inborn; errors immunity; gene therapy ... See more keywords
Autism: Screening of inborn errors of metabolism and unexpected results
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DOI: 10.1002/aur.2486
Abstract: In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM,… read more here.
Keywords: metabolism; autism; dehydrogenase deficiency; errors metabolism ... See more keywords
Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity
Sign Up to like & getrecommendations! Published in 2022 at "Hepatology"
DOI: 10.1002/hep.32539
Abstract: Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune system that affect about 500,000 people in the United States. As advancements in diagnosis through genetic testing and treatment with targeted… read more here.
Keywords: iceberg comprehensive; comprehensive review; liver; inborn errors ... See more keywords
B Vitamins: Small molecules, big effects
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DOI: 10.1002/jimd.12127
Abstract: The B vitamins comprise a group of eight water soluble vitamins (thiamine (B1), riboflavin (B2), niacin (B3), pantothenic acid (B5), pyridoxine (B6), biotin (B7), folate (B9) and cobalamin (B12)) with a myriad of cofactor roles… read more here.
Keywords: metabolism; deficiency; disease; cofactor ... See more keywords
Inborn errors of metabolite repair
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12187
Abstract: It is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side‐products. Recent work indicates that this statement is not entirely… read more here.
Keywords: metabolite repair; classical metabolites; non classical; inborn errors ... See more keywords
Impact of enteral arginine supplementation on lysine metabolism in humans: A proof‐of‐concept for lysine‐related inborn errors of metabolism
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12233
Abstract: Patients with lysine‐related inborn errors of metabolism (pyridoxine‐dependent epilepsy [PDE] and glutaric aciduria type 1 [GA1]), follow a lysine‐restricted diet with arginine‐fortified lysine‐free amino acid formula and additional oral arginine supplementation as a newer therapy… read more here.
Keywords: lysine related; lysine; errors metabolism; arginine ... See more keywords
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12533
Abstract: Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late‐onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye… read more here.
Keywords: movement disorders; movement; inborn errors; errors metabolism ... See more keywords
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12835
Abstract: Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is needed for… read more here.
Keywords: therapy; errors metabolism; metabolism knowledgebase; metabolism ... See more keywords
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.70010
Abstract: The human liver plays a central metabolic role; however, its physiology may become imbalanced in inborn errors of metabolism (IEM), a broad category of monogenic disorders. Liver transplantation has been increasingly used to improve patient… read more here.
Keywords: inborn errors; machine perfusion; normothermic machine; errors metabolism ... See more keywords
Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Leukocyte Biology"
DOI: 10.1002/jlb.5mr0622-037r
Abstract: Inborn errors of immunity are a group of genetic disorders caused by mutations that affect the development and/or function of several compartments of the immune system, predisposing patients to infections, autoimmunity, allergy and malignancies. In… read more here.
Keywords: inborn errors; review; hemophagocytic lymphohistiocytosis; case ... See more keywords
Pediatric and Adult Inborn Errors of Immunity and COVID‐19: A Comparative Study
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Medical Virology"
DOI: 10.1002/jmv.70550
Abstract: COVID‐19 has worse clinical outcomes in inborn errors of immunity (IEI) patients. We aimed to determine COVID‐19‐related hospitalization/ICU admission/mortality risk in patients with IEI. We included 62 COVID‐19 (29 children and 33 adults) in a… read more here.
Keywords: mortality; hospitalization; errors immunity; deficiency ... See more keywords