Results 41 to 50 of about 2,937,536 (254)
Scientific Reports, 2023 The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron +6 more
doaj +1 more source
Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]
, 2017 Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core +2 more sources
Proceedings of the National Academy of Sciences of the United States of America, 2021 Significance While human genes underlying monogenic disorders are expected to undergo negative selection, the factors that impact the intensity of negative selection remain unknown.
Franck Rapaport +15 more
semanticscholar +1 more source
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity
Journal of Clinical Immunology, 2021 Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications.
A. Aghamohammadi +138 more
semanticscholar +1 more source
Coronavirus disease 2019 in patients with inborn errors of immunity: lessons learned
Current opinion in pediatrics, 2021 Purpose of review The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has caused extreme concern for patients with inborn errors of immunity (IEIs).
G. Bucciol, S. Tangye, I. Meyts
semanticscholar +1 more source
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]
, 2019 Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver +2 more
core +2 more sources
IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2
Journal of Clinical Immunology, 2021 We recently reported that inborn errors of the TLR3and IRF7-dependent production and amplification of type I interferons (IFNs) confer a predisposition to life-threatening COVID-19 pneumonia [1]. Inborn errors of eight genes were found to be causal: five
R. Lévy +5 more
semanticscholar +1 more source
Scientific Reports, 2017 Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential therapeutic alternative for mucopolysaccharidosis IVA.
Luis H. Reyes +4 more
doaj +1 more source
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
Medicina, 2021 Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity
Agnieszka Kowalik +2 more
doaj +1 more source