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33 results for Pyruvate+Dehydrogenase+Complex+Deficiency+Disease+-+genetics

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Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency
Author / Creator:Bruhn, Helene ; Naess, Karin ; Ygberg, Sofia ; Peña-Pérez, Lucía ; Lesko, Nicole ; Wibom, Rolf ; Freyer, Christoph ; Stranneheim, Henrik ; Wedell, Anna ; Wredenberg, Anna
Publisher:United States: Hindawi
Journal title:Human mutation, 2024, Vol.2024, p.1-16
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Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients
Author / Creator:Pavlu-Pereira, Hana ; Silva, Maria João ; Florindo, Cristina ; Sequeira, Sílvia ; Ferreira, Ana Cristina ; Duarte, Sofia ; Rodrigues, Ana Luísa ; Janeiro, Patrícia ; Oliveira, Anabela ; Gomes, Daniel ; Bandeira, Anabela ; Martins, Esmeralda ; Gomes, Roseli ; Soares, Sérgia ; Tavares de Almeida, Isabel ; Vicente, João B. ; Rivera, Isabel
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.298-298, Article 298
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Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
Author / Creator:Savvidou, Antri ; Sofou, Kalliopi ; Eklund, Erik A. ; Aronsson, Johan ; Darin, Niklas
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2024-07, Vol.31 (7), p.e16283-n/a
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Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1
Author / Creator:Fecarotta, Simona ; D’Amico, Alessandra ; Di Gennaro, Simona ; Alagia, Marianna ; Rossi, Alessandro ; Zuppaldi, Claudia ; Parenti, Giancarlo ; Terrone, Gaetano
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2024-06, Vol.45 (6), p.2913-2914
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Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
Author / Creator:Horga, Alejandro ; Woodward, Catherine E. ; Mills, Alberto ; Pareés, Isabel ; Hargreaves, Iain P. ; Brown, Ruth M. ; Bugiardini, Enrico ; Brooks, Tony ; Manole, Andreea ; Remzova, Elena ; Rahman, Shamima ; Reilly, Mary M. ; Houlden, Henry ; Sweeney, Mary G. ; Brown, Garry K. ; Polke, James M. ; Gago, Federico ; Parton, Matthew J. ; Pitceathly, Robert D. S. ; Hanna, Michael G.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2019-12, Vol.138 (11-12), p.1313-1322
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Defects of thiamine transport and metabolism
Author / Creator:Brown, Garry
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.577-585
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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
Author / Creator:BARNERIAS, CHRISTINE ; SAUDUBRAY, JEAN‐MARIE ; TOUATI, GUY ; DE LONLAY, PASCALE ; DULAC, OLIVIER ; PONSOT, GERARD ; MARSAC, CÉCILE ; BRIVET, MICHÈLE ; DESGUERRE, ISABELLE
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Developmental medicine and child neurology, 2010-02, Vol.52 (2), p.e1-e9
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A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro
Author / Creator:Li, Ying ; Cheng, Lin ; Li, Xin ; Liu, Jiyu ; Yi, Lu ; Bo, Tao
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2025-03, Vol.51 (1), p.66-9, Article 66
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The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders
Author / Creator:Sperl, Wolfgang ; Fleuren, Leanne ; Freisinger, Peter ; Haack, Tobias B. ; Ribes, Antonia ; Feichtinger, René G. ; Rodenburg, Richard J. ; Zimmermann, Franz A. ; Koch, Johannes ; Rivera, Isabel ; Prokisch, Holger ; Smeitink, Jan A. ; Mayr, Johannes A.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.391-403
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Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex
Author / Creator:Drakulic, Srdja ; Rai, Jay ; Petersen, Steen Vang ; Golas, Monika M. ; Sander, Bjoern
Publisher:Cham: Springer International Publishing
Journal title:Cellular and molecular life sciences : CMLS, 2018-08, Vol.75 (16), p.3009-3026
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Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes
Author / Creator:Ma, YanYan ; Zhang, YaoGang ; Zhang, Tao ; Man, Zhu ; Su, XiaoMing ; Hao, ShuJing ; Wang, TianZe
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-08, Vol.9 (8), p.e1728-n/a
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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element
Author / Creator:Miné, Manuèle ; Chen, Jian-Min ; Brivet, Michèle ; Desguerre, Isabelle ; Marchant, Dominique ; de Lonlay, Pascale ; Bernard, Aral ; Férec, Claude ; Abitbol, Marc ; Ricquier, Daniel ; Marsac, Cécile
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2007-02, Vol.28 (2), p.137-142
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Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
Author / Creator:Lissens, Willy ; De Meirleir, Linda ; Seneca, Sara ; Liebaers, Inge ; Brown, Garry K. ; Brown, Ruth M. ; Ito, Michinori ; Naito, Etsuo ; Kuroda, Yasuhiro ; Kerr, Douglas S. ; Wexler, Isaiah D. ; Patel, Mulchand S. ; Robinson, Brian H. ; Seyda, Agnieszka
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2000-01, Vol.15 (3), p.209-219
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A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency
Author / Creator:Odièvre, Marie-Hélène ; Chretien, Dominique ; Munnich, Arnold ; Robinson, Brian H. ; Dumoulin, Renée ; Masmoudi, Sahben ; Kadhom, Noman ; Rötig, Agnès ; Rustin, Pierre ; Bonnefont, Jean-Paul
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-03, Vol.25 (3), p.323-324
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Liver-Specific Pyruvate Dehydrogenase Complex Deficiency Upregulates Lipogenesis in Adipose Tissue and Improves Peripheral Insulin Sensitivity
Author / Creator:Choi, Cheol Soo ; Ghoshal, Pushpankur ; Srinivasan, Malathi ; Kim, Sheene ; Cline, Gary ; Patel, Mulchand S
Publisher:Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
Journal title:Lipids, 2010-11, Vol.45 (11), p.987-995
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An overview of a cohort of South African patients with mitochondrial disorders
Author / Creator:Smuts, Izelle ; Louw, Roan ; du Toit, Hanli ; Klopper, Brenda ; Mienie, Lodewyk J. ; van der Westhuizen, Francois H.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.95-104
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Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain
Author / Creator:Quintana, Ester ; Pineda, Mercé ; Font, Aida ; Vilaseca, Maria Antonia ; Tort, Frederic ; Ribes, Antonia ; Briones, Paz
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.315-319
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Pyruvate dehydrogenase E3 binding protein (protein X) deficiency
Author / Creator:Brown, RM ; Head, RA ; Morris, AAM ; Raiman, JAJ ; Walter, JH ; Whitehouse, WP ; Brown, GK
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Developmental medicine and child neurology, 2006-09, Vol.48 (9), p.756-760
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Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation
Author / Creator:João Silva, Maria ; Pinheiro, Ana ; Eusébio, Filomena ; Gaspar, Ana ; Tavares de Almeida, Isabel ; Rivera, Isabel
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2009-01, Vol.168 (1), p.17-22
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Pyruvate dehydrogenase deficiency presenting as dystonia in childhood
Author / Creator:Head, RA ; de Goede, CGEL ; Newton, RWN ; Walter, JH ; McShane, MA ; Brown, RM ; Brown, GK
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Developmental medicine and child neurology, 2004-10, Vol.46 (10), p.710-712
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Showing 1 to 20 of 33 results

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Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

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Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

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Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers

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Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1

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Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

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Defects of thiamine transport and metabolism

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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

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A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro

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The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

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Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex

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Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes

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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element

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Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

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A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency

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Liver-Specific Pyruvate Dehydrogenase Complex Deficiency Upregulates Lipogenesis in Adipose Tissue and Improves Peripheral Insulin Sensitivity

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An overview of a cohort of South African patients with mitochondrial disorders

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Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

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Pyruvate dehydrogenase E3 binding protein (protein X) deficiency

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Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

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Pyruvate dehydrogenase deficiency presenting as dystonia in childhood

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