Results 51 to 60 of about 2,937,536 (254)
Human inborn errors of immunity: An expanding universe
Science immunology, 2020 This Review summarizes recent advances in the molecular, cellular, and clinical characterization of human inborn errors of immunity. Molecular, cellular, and clinical studies of human inborn errors of immunity have revolutionized our understanding of ...
L. Notarangelo +3 more
semanticscholar +1 more source
BMC Pediatrics, 2021 Background Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected ...
Monika Bekiesinska-Figatowska +5 more
doaj +1 more source
Inborn errors of metabolite repair [PDF]
Journal of Inherited Metabolic Disease, 2019 AbstractIt 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 correct.
Veiga‐da‐Cunha, Maria +2 more
openaire +3 more sources
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Endocrinology, Diabetes & Metabolism, 2023 Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli +12 more
doaj +1 more source
Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework [PDF]
, 2019 This project aimed to implement consensus recommendations and innovations that improve dietetic services to promote timely referral to optimise nutritional management for adult inpatients with inborn errors of metabolism (IEM).The i-PARIHS framework was ...
Mcgill, Jim +4 more
core +1 more source
Genetic Mosaicism as a Cause of Inborn Errors of Immunity
Journal of Clinical Immunology, 2021 Inborn errors of immunity (IEIs) are a heterogeneous group of disorders due to genetic defects in the immune response that have a broad clinical spectrum.
Jahnavi Aluri, M. Cooper
semanticscholar +1 more source
Universitas Scientiarum, 2016 β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded byHEXA and HEXB genes, respectively.
Angela Johana Espejo Mojica +7 more
doaj +1 more source
Novel MTO1 mutations associated with an intrafamilial phenotypic variability
Egyptian Journal of Medical Human Genetics, 2023 Background Mitochondrial diseases are a group of rare inborn metabolic disorders with multi-systemic manifestations. MTO1 gene mutations are associated with MTO1 (Mitochondrial tRNA Translation Optimization 1) protein deficiency, a mitochondrial disorder,
Catarina Maria Almeida +4 more
doaj +1 more source
Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia [PDF]
, 2016 How to Cite This Article: Najafi R, Hashemipour M, Mostofizadeh N, Ghazavi MR, Nasiri J, Shahsanai A, Famori F, Najafi F, Moafi M. Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. Iran J Child Neurol.
FAMORI, Fatemeh +8 more
core +2 more sources
Monogenic Adult-Onset Inborn Errors of Immunity
Frontiers in Immunology, 2021 Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic defects that functionally impact the development and/or function of the innate and/or adaptive immune system.
F. Staels +8 more
semanticscholar +1 more source