Výsledky vyhledávání - James Pitt

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  1. 1
    Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects

    Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects Autor James Pitt, Simon Hauser

    Vydáno 1998
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  2. 2
    A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

    A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome Autor Louise S. Bicknell, James Pitt, Salim Aftimos, Ram Ramadas, Marion A. Maw, Stephen P. Robertson

    Vydáno 2008
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  3. 3
    Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

    Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Autor Geoffrey N. Thompson, Betty Y.L. Hsu, James Pitt, Eileen P. Treacy, Charles A. Stanley

    Vydáno 1997
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  4. 4
    Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

    Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations Autor James Pitt, Heidi Peters, Avihu Boneh, Joy Yaplito‐Lee, Stefanie Wieser, Katrin Hinderhofer, David H. Johnson, Johannes Zschocke

    Vydáno 2014
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  5. 5
    ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

    ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism Autor Heidi Peters, Nicole E. Buck, Ronald J. A. Wanders, Jos P.N. Ruiter, Hans R. Waterham, Janet Koster, Joy Yaplito‐Lee, Sacha Ferdinandusse, James Pitt

    Vydáno 2014
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  6. 6
    Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

    Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies Autor Bernd Schwahn, Francjan J. van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Günter Schwarz, Flora Y. Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte M. A. Lubout

    Vydáno 2024
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  7. 7
    Tissue-specific splicing of an <i>Ndufs6</i> gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

    Tissue-specific splicing of an <i>Ndufs6</i> gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy Autor Bi-Xia Ke, Salvatore Pepe, David R Grubb, J.C. Komen, Adrienne Laskowski, Felicity A. Rodda, B. Hardman, James Pitt, Michael T. Ryan, Michael Lazarou, Jane Koleff, Michael M.H. Cheung, Joseph J. Smolich, David R. Thorburn

    Vydáno 2012
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  8. 8
    Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

    Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency Autor Patricia Fitzsimons, Charlotte L. Alston, Penelope E. Bonnen, Joanne Hughes, Ellen Crushell, Michael T. Geraghty, Martine Tétreault, Peter M.R. O’Reilly, Eilish Twomey, Yusra Sheikh, Richard Walsh, Hans R. Waterham, Sacha Ferdinandusse, Ronald J. A. Wanders, Robert W. Taylor, James Pitt, Philip Mayne

    Vydáno 2018
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  9. 9
    Proteomic and Metabolomic Analyses of Mitochondrial Complex I-deficient Mouse Model Generated by Spontaneous B2 Short Interspersed Nuclear Element (SINE) Insertion into NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (Ndufs4) Gene

    Proteomic and Metabolomic Analyses of Mitochondrial Complex I-deficient Mouse Model Generated by Spontaneous B2 Short Interspersed Nuclear Element (SINE) Insertion into NADH Dehydr... Autor Dillon Leong, J.C. Komen, Chelsee Hewitt, Estelle Arnaud, Matthew McKenzie, Belinda Phipson, Melanie Bahlo, Adrienne Laskowski, Sarah Kinkel, Gayle M. Davey, William R. Heath, Anne K. Voss, René P. Zahedi, James Pitt, Roman Chrast, Albert Sickmann, Michael T. Ryan, Gordon K. Smyth, David R. Thorburn, Hamish S. Scott

    Vydáno 2012
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  10. 10
    Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

    Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow Autor David E. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker, Minh Bui, Michael Field, Carolyn Rogers, Merlin G. Butler, Alessandra Murgia, Emanuela Leonardi, Roberta Polli, Charles E. Schwartz, Cindy Skinner, Angelica M. Alliende, Lorena Santa María, James Pitt, Ronda F. Greaves, David Francis, Ralph Oertel, Min Wang, Cas Simons, David J. Amor

    Vydáno 2022
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  11. 11
    Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

    Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood Autor Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross, Ramona Salvarinova, Joy Yaplito‐Lee, Saikat Santra, Casper Shyr, Gabriella Horváth, Patrice Eydoux, Anna Lehman, Virginie Bernard, Theresa Newlove, Henry Ukpeh, Anupam Chakrapani, Mary Anne Preece, Sarah Ball, James Pitt, Hilary Vallance, Marion B. Coulter-Mackie, Hien Anh Thi Nguyen, Linhua Zhang, Amit P. Bhavsar, Graham Sinclair, Abdul Waheed, Wyeth W. Wasserman, Sylvia Stöckler‐Ipsiroglu

    Vydáno 2014
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  12. 12
    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder Autor Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli, Vivien Nguyen, Jessica Gereis, Dimuthu Alankarage, David Chitayat, Karen Chong, Ingrid M. Wentzensen, Catherine Vincent‐Delorme, Alban Lermine, Emma Burkitt‐Wright, Weizhen Ji, Lauren Jeffries, Lynn Pais, Tiong Yang Tan, James Pitt, C. Wise, Helen Wright, Israel D. Andrews, Brianna Pruniski, Theresa A. Grebe, Nicole Corsten‐Janssen, Katelijne Bouman, Cathryn Poulton, Supraja Prakash, Boris Keren, Natasha J. Brown, Matthew F. Hunter, Oliver Heath, Saquib A. Lakhani, John McDermott, David B. Ascher, Gavin Chapman, Kayleigh Bozon, Sally L. Dunwoodie

    Vydáno 2024
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