Results 1 to 10 of about 167,642 (275)
Not So Rare: Errors of Metabolism during the Neonatal Period
, 2003 During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core +1 more source
Journal of Inborn Errors of Metabolism and Screening, 2016 Phenylalanine analysis for phenylketonuria (PKU) detection in newborn screening (NBS) was chosen as the model system to describe how advancements in laboratory technology improved laboratory performance.
Donald H. Chace PhD +1 more
doaj +1 more source
Journal of Lipid Research, 1999 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL, E.C. 4.1.3.4) has a unique dual localization in both mitochondria and peroxisomes. Mitochondrial HL (~31.0 kDa) catalyzes the last step of ketogenesis; the function of peroxisomal HL (~33.5 kDa) is unknown.
Lyudmila I. Ashmarina +4 more
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Frontiers in GeneticsInborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,
Dongjuan Wang +10 more
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Origin and evolution of the genetic code: The universal enigma [PDF]
arXiv, 2008 The genetic code is nearly universal, and the arrangement of the codons in the standard codon table is highly non-random. The three main concepts on origin and evolution of the code are the stereochemical theory; the coevolution theory; and the error minimization theory.
arxiv
Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees
Cell Journal, 2016 Objective: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its ...
Somayeh Ahmadloo +4 more
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The Factors of the Classification of Protein Amino Acids [PDF]
This paper is published in GLASNIK of Montenegrin Academy of
Science and arts, 2000, 13, pp. 173-194, 2006 In this work it is shown that three pairs of the factors appear to be the key, i.e. main factors of a natural classification of protein (canonical) amino acids within the amino acid (genetic) code. First pair: the factors of the habit of an amino acid molecule (size and polarity).
arxiv
Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism [PDF]
Archives of Disease in Childhood, 1961 Helen M. M. Mackay +2 more
openaire +3 more sources
Pharmacological Research, 2023 Cognitive and psychiatric disorders are well documented across the lifetime of patients with inborn errors of metabolism (IEMs). Gut microbiota impacts behavior and cognitive functions through the gut-brain axis (GBA).
Sara Parolisi +13 more
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