Results 11 to 20 of about 37,810 (312)
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.
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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
Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia [PDF]
, 2011 BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern ...
Waleed Hamad Al Bu Ali +3 more
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Molecular Genetics and Metabolism Reports, 2020 Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares +13 more
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Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
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Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients
Molecular Genetics and Metabolism Reports, 2019 Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger +7 more
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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
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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
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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
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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
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