An Inborn Error Of Phenylalanine Metabolism
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Health Search databasePMCAll DatabasesAssemblyBioProjectBioSampleBioSystemsBooksClinVarCloneConserved DomainsdbGaPdbVarESTGeneGenomeGEO DataSetsGEO ProfilesGSSGTRHomoloGeneMedGenMeSHNCBI Web SiteNLM CatalogNucleotideOMIMPMCPopSetProbeProteinProtein ClustersPubChem BioAssayPubChem CompoundPubChem
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SubstancePubMedPubMed HealthSNPSRAStructureTaxonomyToolKitToolKitAllToolKitBookToolKitBookghUniGeneSearch termSearch Advanced Journal list Help Journal ListClin inborn error of metabolism examples Biochem Revv.29(1); 2008 FebPMC2423317 Clin Biochem Rev. 2008 Feb; 29(1): 31–41. PMCID: PMC2423317Phenylketonuria: inborn error of metabolism ppt An Inborn Error of Phenylalanine MetabolismRobin A Williams,1,2,* Cyril DS Mamotte,2 and John R Burnett1,3,*1 Department of Core Clinical Pathology & Biochemistry,
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PathWest Laboratory Medicine, Royal Perth Hospital, Perth, WA 68472 School of Biomedical Sciences, Curtin University of Technology, Bentley, WA 60013 School of Medicine & Pharmacology, University of Western Australia, Nedlands, WA 6009, Australia*For correspondence: Mr Robin Williams e-mail: ua.vog.aw.htlaeh@smailliw.nibor and Clin Prof John Burnett e-mail:
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john. ua.vog.aw.htlaeh@ttenrubAuthor information ► Copyright and License information ►The contents of articles or advertisements in The Clinical Biochemist – Reviews are not to be construed as official statements, evaluations or endorsements by the AACB, its official bodies or its agents. Statements of opinion in AACB publications are those of the contributors. Print Post Approved - PP255003/01665. Copyright © 2005 The Australasian Association of Clinical Biochemists Inc. No literary matter in The Clinical Biochemist – Reviews is to be reproduced, stored in a retrieval system or transmitted in any form by electronic or mechanical means, photocopying or recording, without permission. Requests to do so should be addressed to the Editor. ISSN 0159 – 8090This article has been cited by other articles in PMC.AbstractPhenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) m
Health Search databasePMCAll DatabasesAssemblyBioProjectBioSampleBioSystemsBooksClinVarCloneConserved DomainsdbGaPdbVarESTGeneGenomeGEO DataSetsGEO ProfilesGSSGTRHomoloGeneMedGenMeSHNCBI Web SiteNLM CatalogNucleotideOMIMPMCPopSetProbeProteinProtein ClustersPubChem BioAssayPubChem CompoundPubChem SubstancePubMedPubMed HealthSNPSRAStructureTaxonomyToolKitToolKitAllToolKitBookToolKitBookghUniGeneSearch termSearch Advanced Journal list Help Journal ListAging Disv.6(5); inborn error of metabolism review 2015 OctPMC4567221 Aging Dis. 2015 Oct; 6(5): 390–399. Published online 2015
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Oct 1. doi: 10.14336/AD.2015.0827PMCID: PMC4567221Phenylketonuria Pathophysiology: on the Role of Metabolic AlterationsPatrícia Fernanda Schuck,1,* Fernanda Malgarin,1 an inborn error of metabolism is caused by José Henrique Cararo,1 Fabiola Cardoso,2 Emilio Luiz Streck,3 and Gustavo Costa Ferreira21 Laboratório de Erros Inatos do Metabolismo, Unidade Acadêmica de Ciências da Saúde, Universidade do Extremo Sul http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423317/ Catarinense, Criciúma, SC, Brazil2 Instituto de Bioquímica Médica Leopoldo de Meis, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil3 Laboratório de Bioenergética, Unidade Acadêmica de Ciências da Saúde, Universidade do Extremo Sul Catarinense, Criciúma, SC, Brazil.* Correspondence should be addressed to: Patrícia F. Schuck, Unidade Acadêmica de Ciências da Saúde, Universidade do Extremo http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567221/ Sul Catarinense, Criciúma, SC, Brasil. Email: rb.qpnc.qp@kcuhcs.aicirtapAuthor information ► Article notes ► Copyright and License information ►Received 2015 Jul 16; Revisions requested 2015 Aug 25; Accepted 2015 Aug 27.Copyright notice AbstractPhenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism caused by the deficiency of phenylalanine hydroxylase. This deficiency leads to the accumulation of Phe and its metabolites in tissues and body fluids of PKU patients. The main signs and symptoms are found in the brain but the pathophysiology of this disease is not well understood. In this context, metabolic alterations such as oxidative stress, mitochondrial dysfunction, and impaired protein and neurotransmitters synthesis have been described both in animal models and patients. This review aims to discuss the main metabolic disturbances reported in PKU and relate them with the pathophysiology of this disease. The elucidation of the pathophysiology of brain damage found in PKU patients will help to develop better therapeutic strategies to improve quality of life of patients affected by this condition.K
News LAP - The Publisher How To Publish Partners Our Distributors Catalogue Contact LOGIN https://www.lap-publishing.com/catalog/details//store/gb/book/978-3-659-40185-5/inborn-error-of-phenylalanine-metabolism: X Username Password Forgot your password? Subscribe to our mailing list Back Inborn Error of Phenylalanine Metabolism: Easy Methods of Detection of PKU using Plant Enzymatic Assay and Rat Model LAP Lambert Academic Publishing ( 2014-12-30 ) € 49,90 Buy at the MoreBooks! Shop This book encompasses the inborn error technical details of phenylalanine ammonia -lyase (PAL) assay which serves as a quick easy method for detecting phenylketonuria (PKU), an inborn error of phenylalanine metabolism in neonates. The protocol of extraction, immobilization of PAL from a higher plant (Cucumis sativus L.) and its application in assessing the inborn error of activity of a hepatic key enzyme of the malady, phenylalanine hydroxylase (PAH) in the animal experimental system (Wistar Rat Model) are explained. The principle of population screening is to identify persons with biologic markers of the disease. A simple test is imperative to identify the biomarkers of the disease. The novel PAL assays developed in the present research are valid on the pCPA-administered rat model system which can be extended to human phenylketonurics. The book would be immensely useful for clinical biochemists, geneticists and enzymologists. Book Details: ISBN-13: 978-3-659-40185-5 ISBN-10: 3659401854 EAN: 9783659401855 Book language: English By (author) : Ebenezer Wilson Number of pages: 116 Published on: 2014-12-30 Category: Biochemistry, biophysics You have written a master's or a bachelor's thesis? And want to make it available worldwide? Read more about our offers! Copyright © OmniScriptum GmbH & Co. KG
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