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Elsevier电子期刊(110)

在“Elsevier电子期刊”中，命中：110条，耗时：小于0.01 秒

在所有数据库中总计命中：150条

1.Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

作者：Nicholas M. McCrory ; BA¹ ; Mathew J. Edick ; PhD² ; Ayesha Ahmad ; MD³ ; Susan Lipinski ; RD³ ; Jessica A. Scott Schwoerer ; MD⁴ ; Shaohui Zhai ; PhD² ; Kaitlin Justice ; BS² ; Cynthia A. Cameron ; PhD² ; Susan A. Berry ; MD⁵ ; Loren D.M. Pena ; MD ; PhD¹ ; ^{loren.pena@duke.edu} ; on behalf of the Inborn Errors of Metabolism Collaborative^*

关键词：organic acidemia ; newborn screening ; C3 acylcarnitine ; nonketotic ; hyperglycinemia ; hyperammonemia ; longitudinal follow up ; natural ; history

刊名：The Journal of Pediatrics

出版年：2017

2.Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes

作者：Kimberly A. Chapman^a ; ¹ ; Maria S. Collado^c ; ¹ ; Robert A. Figler^c ; Stephen A. Hoang^c ; Allison J. Armstrong^c ; Wanxing Cui^b ; Michael Purdy^d ; Michael B. Simmers^c ; Nada A. Yazigi^b ; Marshall L. Summar^a ; Brian R. Wamhoff^c ; ^{wamhoff@hemoshear.com" class="auth_mail" title="E-mail the corresponding author} ; Ajit Dash^c

关键词：Organic acidemia ; Propionic acidemia ; Ammonia ; Urea ; Hepatocyte ; Hemodynamic flow

刊名：Molecular Genetics and Metabolism

出版年：2016

3.Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia

作者：Mahnaz Darvish-Damavandi ; Han Kiat Ho ; Tse Siang Kang ; ^{tsesiang@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：PA ; propionic acidemia ; PCC ; propionyl coenzyme-A carboxylase ; PP-CoA ; propionyl coenzyme-A ; CPPs ; cell penetrating peptides ; MTS ; mitochondria targeting sequences ; ERT ; enzyme replacement therapy ; MPP ; mitochondrial processing peptidase ; LAD ; lipoamine dehydrogenase ; PCCA ; PCCα subunit ; PCCB ; PCCβ subunit ; His-tag ; six histidines tag ; UPLC-MS/MS ; ultra performance liquid chromatography tandem mass spectrometry ; CoA ; coenzyme-A

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

4.Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community

作者：Jessica Scott Schwoerer^a ; ^{jscottschwoerer@pediatrics.wisc.edu" class="auth_mail" title="E-mail the corresponding author} ; Sandra van Calcar^b ; Gregory M. Rice^a ; James Deline^c

关键词：PA ; Propionic acidemia ; IEM ; Inborn error in metabolism

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

5.Autism in patients with propionic acidemia

作者：Peter Witters^a ; Eric Debbold^b ; Kea Crivelly^b ; Kristel Vande Kerckhove^a ; Karen Corthouts^a ; Brett Debbold^b ; Hans Andersson^b ; Lena Vannieuwenborg^c ; Sam Geuens^c ; Matthias Baumgartner^d ; Tamas Kozicz^b ; ^e ; Lisa Settles^f ; Eva Morava^a ; ^b ; ^{emoravakozicz@tulane.edu}

关键词：Autistic ; Propionic acid ; Valine ; Leucine ; Lactic acid ; Mitochondria ; Intellectual disability ; ASD ; Dietary therapy

刊名：Molecular Genetics and Metabolism

出版年：2016

6.In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder

作者：L. Gallego-Villar^a ; ^b ; ^c ; ¹ ; A. Rivera-Barahona^a ; ^b ; ^c ; ¹ ; C. Cuevas-Martí ; n^a ; ^b ; A. Guenzel^d ; B. Pé ; rez^a ; ^b ; ^c ; M.A. Barry^d ; M.P. Murphy^e ; A. Logan^e ; A. Gonzalez-Quintana^b ; ^f ; M.A. Martí ; n^b ; ^f ; S. Medina^g ; A. Gil-Izquierdo^g ; J.M. Cuezva^a ; ^b ; E. Richard^a ; ^b ; ^c ; ² ; L.R. Desviat^a ; ^b ; ^c ; ² ; ^{lruiz@cbm.csic.es" class="auth_mail" title="E-mail the corresponding author}

关键词：βF1 ; ATP synthase ; F1 complex ; beta polypeptide ; BNP ; brain natriuretic peptide ; C-III ; complex III ; COX-II ; cytochrome c oxidase subunit II ; COX-IV ; cytochrome c oxidase subunit IV ; DAPI ; 4&prime ; 6-diamidino-2-phenylindole ; DHE ; dihydroethidium ; GPx1 ; glutathione peroxidase ; HADHA ; hydroxyacyl-CoA dehydrogenase ; alpha subunit ; IF1 ; ATPase inhibitory factor 1 ; IsoPs ; Isoprostanes ; LDHA ; lactate dehydrogenase A ; MDA ; malondialdehyde ; MMA ; methylmalonic academia ; NDUFS3 ; NADH dehydrogenase (ubiqu

刊名：Free Radical Biology and Medicine

出版年：2016

7.Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys

作者：Joy X. Wen ; MD¹ ; L. Richard Feldenberg ; MD¹ ; Elizabeth Abraham ; MD ; MS² ; Farouk Sadiq ; MD¹ ; Katherine M. Christensen ; MS¹ ; Stephen R. Braddock ; MD¹

关键词：continuous renal replacement therapy ; hemodialysis ; prematurity

刊名：The Journal of Pediatrics

出版年：2016

8.Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

作者：Paula J. Waters^a ; ¹ ; ^{Paula.J.Waters@USherbrooke.ca} ; Fanny Thuriot^a ; ¹ ; ^{Fanny.Thuriot@USherbrooke.ca} ; Joe T.R. Clarke^a ; ¹ ; ^{joeclarke@sympatico.ca} ; Serge Gravel^a ; ¹ ; ^{Serge.Gravel@USherbrooke.ca} ; David Watkins^b ; ² ; ^{david.watkins@mcgill.ca} ; David S. Rosenblatt^b ; ² ; ^{david.rosenblatt@mcgill.ca} ; Sé ; bastien Lé ; vesque^a ; ¹ ; ^{Sebastien.A.Levesque@USherbrooke.ca}

关键词：Methylmalonyl-coA epimerase ; Methylmalonyl-coA racemase ; Methylmalonic aciduria ; Propionic aciduria ; Complementation analysis ; Intronic mutation ; Splicing mutation

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

9.Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias

作者：Sabrina Malvagia^a ; ¹ ; Christopher A. Haynes^b ; ¹ ; Laura Grisotto^c ; Daniela Ombrone^a ; Silvia Funghini^a ; Elisa Moretti^d ; Kathleen S. McGreevy^e ; Annibale Biggeri^c ; Renzo Guerrini^f ; Raquel Yahyaoui^g ; Uttam Garg^h ; Mary Seeterlinⁱ ; Donald Chace^j ; Victor R. De Jesus^b ; Giancarlo la Marca^a ; ^{g.lamarca@meyer.it" class="auth_mail" title="E-mail the corresponding author} ; ^{giancarlo.lamarca@unifi.it" class="auth_mail" title="E-mail the corresponding author}

关键词：C16 ; 1-OH ; 3-hydroxypalmitoleoyl-carnitine ; PA ; propionic acidemia ; MMA ; methylmalonic acidemia ; LCHADD ; long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ; TFP ; trifunctional protein deficiency ; DBS ; dried blood spot ; C17 ; heptadecanoylcarnitine ; C3 ; propionylcarnitine ; C3/C2 ; propionylcarnitine/acetylcarnitine ; C3/C16 ; propionylcarnitine/palmitoylcarnitine ; C3/Met ; propionylcarnitine/methionine ; 2nd TT ; second-tier test ; NBS ; newborn screening ; MRM ; multiple reaction monitoring ; HCD ; higher

刊名：Clinica Chimica Acta

出版年：2015

10.Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias

作者：A.L. Colí ; n-Gonzá ; lez^a ; ^&dagger ; ; A.L. Paz-Loyola^a ; ^&dagger ; ; I. Serratos^b ; B. Seminotti^c ; ^&dagger ; ; C.A.J. Ribeiro^c ; ^&dagger ; ; G. Leipnitz^c ; D.O. Souza^c ; M. Wajner^c ; ^d ; ^{mwajner@ufrgs.br" class="auth_mail" title="E-mail the corresponding author} ; A. Santamarí ; a^a ; ^{absada@yahoo.com" class="auth_mail" title="E-mail the corresponding author}

关键词：GA ; glutaric acid ; GA I ; glutaric acidemia type I ; GDD ; glutaryl-CoA dehydrogenase ; HEPES ; 4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid ; KA ; kynurenic acid ; KP ; kynurenine pathway ; l-NAME ; l-nitro-l-arginine methyl ester ; MDA ; Malondialdehyde ; MMA ; methylmalonic acid ; MMAcidemia ; methylmalonic acidemia ; MTT ; 3-(4 ; 5-dimethylthiazol-2-yl)-2 ; 5-diphenyltetrazolium bromide ; NMDA ; N-methyl-d-aspartate ; NMDAr ; NMDA receptors ; NOS ; nitric oxide synthase ; OA ; organic acidemias ; PA ; propionic acid

刊名：Neuroscience

出版年：2015

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