Results 1 to 10 of about 2,741,348 (370)

Renal replacement therapy in neonates with an inborn error of metabolism [PDF]

Korean J Pediatr, 2019
Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism.
Heeyeon Cho
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Continuous renal replacement therapy for two neonates with hyperammonemia [PDF]

Frontiers in Pediatrics, 2021
Objectives: This study aims to assess the feasibility of using hemofiltration for ammonia clearance in low body weight infants with an inborn error of metabolism. Design: A study of two cases.
Caroline Williams, Christopher Markham, Cory Miller, Dorothy K. Grange, Kenneth E. Remy, Kenneth E. Remy, T. Keefe Davis   +6 more
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Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism [PDF]

Genes Dis, 2021
Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the ...
Berry, Neil G., Bou-Gharios, George, Davison, Andrew S., Gallagher, James A., Hughes, Andrew T., Hughes, Juliette H., Jarvis, Jonathan C., Milan, Anna M., Norman, Brendan P., Ranganath, Lakshminarayan R., Roberts, Norman B., Sutherland, Hazel, Wilson, Peter JM   +12 more
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Two cases of carbonic anhydrase va deficiency—an ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome [PDF]

, 2021
The combination of neonatal hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia is pathognomonic for carbonic anhydrase VA (CA-VA) deficiency. We present two cases of this rare inborn error of metabolism.
Cresswell, David, Hamwi, Nadia, Ibrahim, Judy, Marwaha, Ashish, Prasad, Chitra, Rice, Taylor, Rupar, Charles Anthony, Schulze, Andreas   +7 more
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Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses [PDF]

, 2021
The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of
Abadie V., Acosta A., Aldámiz‐Echevarría L., Anderson P. J., Aoki K., Aulehla‐Scholz C., Berthelon M., Bickel H., Birk M. L., Blau N., Blau N., Blau N., Blau N., Blau N., Bonafé L., Bonyadi M., Borrajo G. J., Bueno M. A., Byck S., Camp K. M., Daniele A., Delgado P. C., Desviat L. R., Dianzani I., Donlon J., Drummond A. J., Dworniczak B., Dworniczak B., El‐Metwally A., Enacán R. E., Erlandsen H., Fölling A., Ghiasvand N. M., Giannattasio S., Giannattasio S., Giovannini M., Guldberg P., Guldberg P., Guldberg P., Guldberg P., Gundorova P., Guthrie R., Guthrie R., Gámez A., Güttler F., Habib A., Hamzehloei T., Harding C. O., Ichinose H., Jaruzelska J., Jiang J., Kayaalp E., Koochmeshgi J., Kostandyan N., Lilleväli H., Lilleväli H., Liu N., Loeber J. G., Madden M., Magalhães J., Magalhães J., Marcão A., Michals‐Matalon K., National Institutes of Health Consensus Development Panel, Okano Y., Osório R., Osório R. V., Ozalp I., Ozgüç M., Pangkanon S., Phenylketonuria, Pérez B., Rivera I., Rivera I., Rivera I., Santos L. L., Santos L. L., Scriver C. R., Scriver C. R., Smith I., Sousa R., Staudigl M., Sumaily K. M., Thöny B., Traeger‐Synodinos J., Trefz F. K., Vallian S., Vieira Neto E., Vieira Neto E., Vilarinho L., Vilarinho L., Vilarinho L., Vilarinho L., Walter J. H., Waters P. J., Wegberg A. M. J., Zare‐Karizi S. H., Zhan J. Y., Zschocke J., Zschocke J., Zschocke J., Zschocke J.   +101 more
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Increased atherosclerosis in a mouse model of glycogen storage disease type 1a [PDF]

, 2022
Glycogen storage disease type 1a (GSD Ia) is an inborn error of carbohydrate metabolism. Despite severe hyperlipidemia, GSD Ia patients show limited atherogenesis compared to age-and-gender matched controls.
Bazioti, Venetia, Groenen, Anouk G., Halmos, Benedek, Havinga, Rick, Kloosterhuis, Niels J., Koster, Mirjam H., Krishnamurthy, Kishore A., Kuipers, Folkert, La Rose, Anouk M., Mithieux, Gilles, Oosterveer, Maaike H., Rajas, Fabienne, Rutten, Martijn G.S., Smit, Marieke, Westerterp, Marit   +14 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, Ismail, Israa T, Showalter, Megan R   +2 more
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The 3-methylglutaconic acidurias: what’s new? [PDF]

, 2010
The heterogeneous group of 3-methylglutaconic aciduria (3-MGA-uria) syndromes includes several inborn errors of metabolism biochemically characterized by increased urinary excretion of 3-methylglutaconic acid.
A Cantlay, A Cízková, C Jakobs, C Verny, D Chitayat, D Figarella-Branger, DC Dale, E Holme, E Morava, Eva Morava, F Lynen, F Scaglia, F Valianpour, G Leipnitz, G Rosa Di, GJ Schroepfer Jr, GT Besley, H Costeff, H Ibel, J Christodoulou, J Edmond, J Mangat, JA Mayr, JL Goldstein, K Faull, K Narisawa, K Neas, K Roesch, KM Davey, KM Gibson, KM Gibson, L IJlst, L Meirleir De, LE Brennan, Leo A. Kluijtmans, LK Law, M Duran, M Duran, M Eriguchi, M Gunay-Aygun, M Hughes-Fulford, M Huizing, M Matsumori, MC Vries De, MM Mazzocco, MR Schmidt, ON Elpeleg, P Reynier, PG Barth, PG Barth, R Ensenauer, R Hastings, R Kelley, R Kelley, R Kleta, R Walsh, R Walsh, RD Kremer De, RH Houtkooper, RH Houtkooper, Ron A. Wevers, S Bione, S Illsinger, S Ruesch, S Wortmann, Saskia B. Wortmann, SB Weinstock, SB Wortmann, SS Adwani, SW Ryu, T Honzík, T Koning De, TB Ly, TY Yen, U Engelke, U Lichter-Konecki, Udo F. H. Engelke, W Pei, W Sperl, WC Liang, Y Anikster   +80 more
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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, GHAZAVI, Mohammadreza, HASHEMIPOUR, Mahin, MOAFI, Mohammad, MOSTOFIZADEH, Neda, NAJAFI, Fatemeh, NAJAFI, Reza, NASIRI, Jafar, SHAHSANAI, Armindokht   +8 more
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Inborn errors in the metabolism of glutathione [PDF]

Orphanet Journal of Rare Diseases, 2007
Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functions, including free radical scavenging, detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA, proteins and ...
Ellinor Ristoff, Agne Larsson
openaire   +4 more sources