Results 21 to 30 of about 585 (187)

Mutations in SRD5B1 (AKR1D1), the gene encoding Delta(4)-3-oxosteroid 5 beta-reductase, in hepatitis and liver failure in infancy [PDF]

, 2003
Background: A substantial group of patients with cholestatic liver disease in infancy excrete, as the major urinary bile acids, the glycine and taurine conjugates of 7alpha-hydroxy-3-oxo-4-cholenoic acid and 7alpha, 12alpha-dihydroxy-3- oxo-4-cholenoic ...
Duran, M., Scambler, PJ, Custard, E. J., Bouquet, J, Lemonde, H. A., Clayton, P. T., Duran, M, Overmars, H, Bouquet, J., Scambler, P.J., Lemonde, H., Clayton, P.T., Custard, EJ, Scambler, P. J., Clayton, PT, Lemonde, HA, Custard, E.J., Overmars, H.   +17 more
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Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism. [PDF]

, 2020
Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction.
Ramos, Federico, Cortès i Saladelafont, Elisenda, Sierra, Cristina, Ormazabal Herrero, Aida, Couce, María Luz, Meavilla, Silvia, De Los Santos, Mariela, Artuch Iriberri, Rafael, Armstrong, Judith, Batllori, Marta, Garcia-Volpe, Camila, Garcia-Cazorla, Àngels, Balada Caballé, Rafael, Alcántara Horrillo, Soledad, Tristán Noguero, Alba, Colomé, Roser, Castells, Aina-Alba, Gueraldi, Daniela   +17 more
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Non-Enzymatic Formation of N-acetylated Amino Acid Conjugates in Urine

Applied Sciences, 2023
Unknown N-acylated amino acid (N-AAA) conjugates have been detected in maple syrup urine disease (MSUD) and other inborn errors of metabolism (IEMs). This study aimed to elucidate the mechanism behind the formation of urinary N-AAA conjugates.
Jano Jacobs, Cornelia Gertina Catharina Elizabeth van Sittert, Lodewyk Japie Mienie, Marli Dercksen, Monique Opperman, Barend Christiaan Vorster   +5 more
doaj   +1 more source

Fifteen years experience: Egyptian metabolic lab

Egyptian Journal of Medical Human Genetics, 2014
Background: Inborn errors of metabolism (IEM) are single gene disorders responsible for abnormalities in the synthesis or catabolism of proteins, carbohydrates and fats by means of defective enzymes or transport proteins which results in a block of the ...
Ekram M. Fateen, Amr S. Gouda, Mona M. Ibrahim, Zeinab Y. Abdallah   +3 more
doaj   +1 more source

Impaired biotin status in anticonvulsant therapy [PDF]

, 1982
In 264 epileptics undergoing long-term therapy with anticonvulsants, significantly reduced plasma biotin levels were found compared with a normal control group: 74% of the epileptics had biotin levels for those treated with sodium valproate were higher ...
Krause, Klaus-Henning, Bonjour, Jean-Pierre, Berlit, Peter   +2 more
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Amino acid metabolism and disease

, 2023
4 p.The origin of life is still a matter of debate, and several hypotheses have been proposed to explain how the building blocks leading to the minimal cell were formed [1], with the amino acids among them. However, when considering their role, the first
Pajares, María Ángeles, María Ángeles Pajares   +1 more
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Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease [PDF]

, 2020
Refsum disease (RD) is an inborn error of metabolism that is characterised by a defect in peroxisomal α-oxidation of the branched-chain fatty acid phytanic acid.
Waterham, Hans R., Justina C. Wolters, Wolters, Justina C, Gerding, A., Wanders, R.J.A., Herzog, Katharina,, Barbara M. Bakker, Dolga, Amalia M.,, Bakker, B.M., Kwiatkowski, M., Amalia M. Dolga, Bakker, Barbara M., van Lint, Alida E.M.,, Wolters, Justina C; id_orcid, van Lint, Alida E.M., Wanders, Ronald J. A., Wegrzyn, Agnieszka B.,, Herzog, Katharina, Bakker, Barbara M, Wolters, Justina C.,, Wegrzyn, Agnieszka B, Wolters, J.C., Gerding, Albert, Kwiatkowski, Marcel, Wanders, Ronald J.A.,, Bakker, Barbara M.,, Herzog, K., Wanders, Ronald J.A., Lund University., Hans R. Waterham, Waterham, Hans R, Wegrzyn, A.B., van Lint, Alida E. M., Wanders, Ronald J A, Dolga, Amalia M, Dolga, Amalia M., Gerding, Albert,, Dolga, Amalia M; id_orcid, Marcel Kwiatkowski, van Lint, Alida E M, Katharina Herzog, Waterham, Hans R.,, Waterham, H.R., Ronald J. A. Wanders, Alida E. M. van Lint, Lint, A.E.M. van, Wolters, Justina C., Kwiatkowski, Marcel,, Bakker, Barbara M; id_orcid, Wegrzyn, Agnieszka B., Agnieszka B. Wegrzyn, Albert Gerding, Dolga, A.M.   +52 more
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Clinical phenotype and gene mutation of short-chain acyl-coenzyme A dehydrogenase deficiency in a Chinese family

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To analyze the clinical phenotype and genetic characteristics of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD). Methods and Results The proband was one month and 14 days old girl, who presented mental and motor retardation ...
Xin-na JI, Ying-ying MAO, Zhi-jie GAO, Bo-jing TAN, Yun-lin LI, Ke-ming XU, Qian CHEN, Shu-hua CHEN   +7 more
doaj   +1 more source

The importance of plasma amino acid profiling in the diagnosis of inborn errors of metabolism [PDF]

, 2021
Institute of Mother and ChildIntroduction: Inborn errors of metabolism (IEM) make up a large group of disorders caused by an inherited defect of proteins that have enzymatic, carrier, receptor or structural roles.
Efremov, Egor, Blăniță, Daniela, Hlistun, Victoria, Boiciuc, Chiril, Ușurelu, Natalia   +4 more
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Molecular basis and functional characterization of human 3-methylcrotonyl-CoA carboxylase deficiency [PDF]

, 2009
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is a rare disorder of leucine catabolism inherited as an autosomal recessive trait. The phenotypic expression of the disease is highly variable, ranging from neonatal onset with severe neurological ...
Dantas, Maria Fernanda
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