Search Results - Irini Manoli

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  1. 1
    Disorders of branched chain amino acid metabolism

    Disorders of branched chain amino acid metabolism by Irini Manoli, Charles P. Venditti

    Published 2016
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  2. 2
    Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations

    Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations by Natalie Hauser, Irini Manoli, Jennifer Graf, Jennifer L. Sloan, Charles P. Venditti

    Published 2010
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  3. 3
    A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias

    A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias by Irini Manoli, Jennifer Myles, Jennifer L. Sloan, Oleg A. Shchelochkov, Charles P. Venditti

    Published 2015
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  4. 4
    Renal growth in isolated methylmalonic acidemia

    Renal growth in isolated methylmalonic acidemia by Paul Kruszka, Irini Manoli, Jennifer L. Sloan, Jeffrey B. Kopp, Charles P. Venditti

    Published 2013
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  5. 5
    Glucocorticoid receptor (GR) β has intrinsic, GRα-independent transcriptional activity

    Glucocorticoid receptor (GR) β has intrinsic, GRα-independent transcriptional activity by Tomoshige Kino, Irini Manoli, Sujata Kelkar, Yonghong Wang, Yan Su, George P. Chrousos

    Published 2009
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  6. 6
    Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

    Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency by Brian P. Brooks, A. Thompson, Jennifer L. Sloan, Irini Manoli, Nuria Carrillo, Wadih M. Zein, Charles P. Venditti

    Published 2016
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  7. 7
    Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging

    Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging by KowsalyaDevi Pavuluri, Irini Manoli, Alexandra Pass, Yuguo Li, Hilary J. Vernon, Charles P. Venditti, Michael T. McMahon

    Published 2019
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  8. 8
    MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

    MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia by Eva H. Baker, Jennifer L. Sloan, Natalie Hauser, Andrea Gropman, Dan Adams, Camilo Toro, Irini Manoli, Charles P. Venditti

    Published 2014
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  9. 9
    Epstein-Barr virus NK and T cell lymphoproliferative disease: report of a 2018 international meeting

    Epstein-Barr virus NK and T cell lymphoproliferative disease: report of a 2018 international meeting by Jeffrey I. Cohen, Keiji Iwatsuki, Young Hyeh Ko, Hiroshi Kimura, Irini Manoli, Koichi Ohshima, Stefania Pittaluga, Leticia Quintanilla‐Martínez, Elaine S. Jaffe

    Published 2019
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  10. 10
    Neurocognitive Phenotype of Isolated Methylmalonic Acidemia

    Neurocognitive Phenotype of Isolated Methylmalonic Acidemia by Colin J. O’Shea, Jennifer L. Sloan, Edythe Wiggs, Maryland Pao, Andrea Gropman, Eva H. Baker, Irini Manoli, Charles P. Venditti, Joseph Snow

    Published 2012
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  11. 11
    Brx Mediates the Response of Lymphocytes to Osmotic Stress Through the Activation of NFAT5

    Brx Mediates the Response of Lymphocytes to Osmotic Stress Through the Activation of NFAT5 by Tomoshige Kino, Hiroaki Takatori, Irini Manoli, Yonghong Wang, Anatoly Tiulpakov, Marc R. Blackman, Yan Su, George P. Chrousos, Alan H. DeCherney, James H. Segars

    Published 2009
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  12. 12
    Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin

    Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin by PamelaSara E. Head, Sangho Myung, Yong Chen, Jessica L. Schneller, Cindy Wang, Nicholas R. Duncan, Pauline R. Hoffman, David K. Chang, Abigael Gebremariam, Marjan Guček, Irini Manoli, Charles P. Venditti

    Published 2022
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  13. 13
    Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

    Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine by Belinda Galeano, Riko Klootwijk, Irini Manoli, MaoSen Sun, Carla Ciccone, Daniel Darvish, Matthew F. Starost, Patricia M. Zerfas, Victoria Hoffmann, Shelley Hoogstraten-Miller, Donna M. Krasnewich, William A. Gahl, Marjan Huizing

    Published 2007
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  14. 14
    Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

    Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia by Irini Manoli, Abigael Gebremariam, Samantha McCoy, Alexandra Pass, Jack Gagné, Camryn Hall, Susan Ferry, Carol Van Ryzin, Jennifer L. Sloan, Elisa Sacchetti, Giulio Catesini, Cristiano Rizzo, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici, Charles P. Venditti

    Published 2023
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  15. 15
    Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism

    Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism by Carles Lerín, Allison B. Goldfine, Tanner Boes, Manway Liu, Simon Kasif, Jonathan M. Dreyfuss, Ana Luísa De Sousa‐Coelho, Grace Daher, Irini Manoli, Justin R. Sysol, Elvira Isganaitis, Niels Jessen, Laurie J. Goodyear, Kirk Beebe, Walt Gall, Charles P. Venditti, Mary‐Elizabeth Patti

    Published 2016
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  16. 16
    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 by Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli, Curtis R. Coughlin, Elizabeth A. Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L.K. Van Hove, Brian Fowler, Matthias R. Baumgartner, David S. Rosenblatt, Charles P. Venditti, Tamim H. Shaikh

    Published 2013
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  17. 17
    Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

    Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome by Aida Telegrafi, Bryn D. Webb, Sarah M. Robbins, Carlos E. Speck‐Martins, David Fitzpatrick, Leah R. Fleming, Richard J. Redett, Andreas Dufke, Gunnar Houge, J. J. T. van Harssel, Alain Verloès, Angela Robles, Irini Manoli, Elizabeth C. Engle, Ethylin Wang Jabs, David Valle, John C. Carey, Julie Hoover‐Fong, Nara L. M. Sobreira

    Published 2017
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  18. 18
    Hydroa vacciniforme–like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites

    Hydroa vacciniforme–like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites by Jeffrey I. Cohen, Irini Manoli, Kennichi Dowdell, Tammy Krogmann, Deborah Tamura, Pierce Radecki, Wei Bu, Siu-Ping Turk, Kelly Liepshutz, Ronald L. Hornung, Hiva Fassihi, Robert Sarkany, Lori L. Bonnycastle, Peter S. Chines, Amy J. Swift, Timothy G. Myers, Melissa A. Levoska, John J. DiGiovanna, Francis S. Collins, Kenneth H. Kraemer, Stefania Pittaluga, Elaine S. Jaffe

    Published 2019
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  19. 19
    Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

    Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia by Irini Manoli, Justin R. Sysol, Lingli Li, Pascal Houillier, Caterina Garone, Cindy Wang, Patricia M. Zerfas, Kristina Cusmano‐Ozog, Sarah P. Young, Niraj Trivedi, Jun Cheng, Jennifer L. Sloan, Randy J. Chandler, Mones Abu‐Asab, Maria Tsokos, Abdel Elkahloun, Seymour Rosen, Gregory M. Enns, Gerard T. Berry, Victoria Hoffmann, Salvatore DiMauro, Jürgen Schnermann, Charles P. Venditti

    Published 2013
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  20. 20
    Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

    Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria by Jennifer L. Sloan, Jennifer J. Johnston, Irini Manoli, Randy J. Chandler, Caitlin Krause, Nuria Carrillo, Suma Chandrasekaran, Justin R. Sysol, Kevin O’Brien, Natalie Hauser, Julie C. Sapp, Heidi Dorward, Marjan Huizing, Bruce A. Barshop, Susan A. Berry, Philip James, Neena L. Champaigne, Pascale de Lonlay, Vassilli Valayannopoulos, Michael D. Geschwind, Dimitar K. Gavrilov, William L. Nyhan, Leslie G. Biesecker, Charles P. Venditti

    Published 2011
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