Hasil Pencarian - Lorenzo D Botto

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  1. 1
    Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency

    Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase defic... oleh Ashley Andrews, Sarah Roberts, Lorenzo D. Botto

    Diterbitkan 2022-12-01
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  2. 2
    MADD-like pattern of acylcarnitines associated with sertraline use

    MADD-like pattern of acylcarnitines associated with sertraline use oleh Filippo Ingoglia, Mohsen Tanfous, Benjamin Ellezam, Katherine J. Anderson, Marzia Pasquali, Lorenzo D. Botto

    Diterbitkan 2024-12-01
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  3. 3
    International Undiagnosed Diseases Programs (UDPs): components and outcomes

    International Undiagnosed Diseases Programs (UDPs): components and outcomes oleh Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer

    Diterbitkan 2023-11-01
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  4. 4
    Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International

    Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International oleh Elizabeth Emma Palmer, Helene Cederroth, Mikk Cederroth, Angelica Maria Delgado-Vega, Natalie Roberts, Fulya Taylan, Ann Nordgren, Lorenzo D. Botto

    Diterbitkan 2024-07-01
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  5. 5
    A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies

    A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies oleh Shelby Geilmann, Rachel Solstad, Rachel Palmquist, Josue Flores Daboub, Lorenzo D. Botto, Peter H. Grubb, Josh L. Bonkowsky, Nicola Longo, Sabrina Malone Jenkins

    Diterbitkan 2023-01-01
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  6. 6
    Action against birth defects: if not now, when?

    Action against birth defects: if not now, when? oleh Kathleen Strong, Judith Robb-McCord, Salimah Walani, Cecilia Mellado, Lorenzo D. Botto, Guillermo Lay-Son, Theresa Diaz, Tahmina Banu, Kokila Lakhoo, Anshu Banerjee

    Diterbitkan 2024-12-01
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  7. 7
    Public Health Approach to Improve Outcomes for Congenital Heart Disease Across the Life Span

    Public Health Approach to Improve Outcomes for Congenital Heart Disease Across the Life Span oleh Kathy J. Jenkins, Lorenzo D. Botto, Adolfo Correa, Elyse Foster, Jennifer K. Kupiec, Bradley S. Marino, Matthew E. Oster, Karen K. Stout, Margaret A. Honein

    Diterbitkan 2019-04-01
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  8. 8
    Cancer risk in children and adolescents with birth defects: a population-based cohort study.

    Cancer risk in children and adolescents with birth defects: a population-based cohort study. oleh Lorenzo D Botto, Timothy Flood, Julian Little, Mark N Fluchel, Sergey Krikov, Marcia L Feldkamp, Yuan Wu, Rhinda Goedken, Soman Puzhankara, Paul A Romitti

    Diterbitkan 2013-01-01
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  9. 9
    Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children

    Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children oleh Hassan Sarker, Eugenio Hardy, Ayman Haimour, Mahmoud A. Karim, Sabine Scholl-Bürgi, John A. Martignetti, John A. Martignetti, Lorenzo D. Botto, Carlos Fernandez-Patron

    Diterbitkan 2020-09-01
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  10. 10
    Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance

    Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance oleh Marci K. Sontag, Deboshree Sarkar, Anne M. Comeau, Kathryn Hassell, Lorenzo D. Botto, Richard Parad, Susan R. Rose, Kupper A. Wintergerst, Kim Smith-Whitley, Sikha Singh, Careema Yusuf, Jelili Ojodu, Sara Copeland, Cynthia F. Hinton

    Diterbitkan 2018-05-01
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  11. 11
    Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

    Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway oleh Tolulope Sokoya, Jan Parolek, Mads Møller Foged, Dmytro I Danylchuk, Manuel Bozan, Bingshati Sarkar, Angelika Hilderink, Michael Philippi, Lorenzo D Botto, Paulien A Terhal, Outi Mäkitie, Jacob Piehler, Yeongho Kim, Christopher G Burd, Andrey S Klymchenko, Kenji Maeda, Joost CM Holthuis

    Diterbitkan 2022-09-01
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  12. 12
    Mandatory food fortification with folic acid – Authors' reply

    Mandatory food fortification with folic acid – Authors' reply oleh Vijaya Kancherla, Lorenzo D Botto, Laura A Rowe, Nathan A Shlobin, Adrian Caceres, Anastasia Arynchyna-Smith, Kathrin Zimmerman, Jeffrey Blount, Zewdie Kibruyisfaw, Kemel A Ghotme, Santosh Karmarkar, Graham Fieggen, Sylvia Roozen, Godfrey P Oakley, Jr, Gail Rosseau, Robert J Berry

    Diterbitkan 2022-10-01
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  13. 13
    Health Care Usage Among Adolescents With Congenital Heart Defects at 5 Sites in the United States, 2011 to 2013

    Health Care Usage Among Adolescents With Congenital Heart Defects at 5 Sites in the United States, 2011 to 2013 oleh George K. Lui, Kristin Sommerhalter, Yizhao Xi, Lorenzo D. Botto, Tessa Crume, Sherry Farr, Marcia L. Feldkamp, Jill Glidewell, Daphne Hsu, Amber Khanna, Sergey Krikov, Jennifer Li, Cheryl Raskind‐Hood, Lauren Sarno, Alissa R. Van Zutphen, Ali Zaidi, Aida Soim, Wendy M. Book

    Diterbitkan 2022-09-01
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  14. 14
    Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.

    Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach. oleh Jenil Patel, Emine Bircan, Xinyu Tang, Mohammed Orloff, Charlotte A Hobbs, Marilyn L Browne, Lorenzo D Botto, Richard H Finnell, Mary M Jenkins, Andrew Olshan, Paul A Romitti, Gary M Shaw, Martha M Werler, Jingyun Li, Wendy N Nembhard, National Birth Defects Prevention Study

    Diterbitkan 2021-03-01
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  15. 15
    The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review.

    The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review. oleh Aminkeng Zawuo Leke, Helen Malherbe, Emma Kalk, Ushma Mehta, Phylis Kisa, Lorenzo D Botto, Idowu Ayede, Lee Fairlie, Nkwati Michel Maboh, Ieda Orioli, Rebecca Zash, Ronald Kusolo, Daniel Mumpe-Mwanja, Robert Serujogi, Bodo Bongomin, Caroline Osoro, Clarisse Dah, Olive Sentumbwe-Mugisha, Hamisi Kimaro Shabani, Philippa Musoke, Helen Dolk, Linda Barlow-Mosha

    Diterbitkan 2023-01-01
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  16. 16
    Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

    Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants oleh Luca Brunelli, Sabrina M. Jenkins, James M. Gudgeon, Steven B. Bleyl, Christine E. Miller, Tatiana Tvrdik, Shale A. Dames, Betsy Ostrander, Josue A. F. Daboub, Brandon A. Zielinski, Erin K. Zinkhan, Hunter R. Underhill, Theodore Wilson, Joshua L. Bonkowsky, Christian C. Yost, Lorenzo D. Botto, Justin Jenkins, Theodore J. Pysher, Pinar Bayrak‐Toydemir, Rong Mao

    Diterbitkan 2019-07-01
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  17. 17
    Preventing birth defects, saving lives, and promoting health equity: an urgent call to action for universal mandatory food fortification with folic acid

    Preventing birth defects, saving lives, and promoting health equity: an urgent call to action for universal mandatory food fortification with folic acid oleh Vijaya Kancherla, PhD, Lorenzo D Botto, MD, Laura A Rowe, MPH, Nathan A Shlobin, BA, Adrian Caceres, MD, Anastasia Arynchyna-Smith, MPH, Kathrin Zimmerman, BA, Jeffrey Blount, MD, Zewdie Kibruyisfaw, MD, Kemel A Ghotme, MD, Santosh Karmarkar, MCh, Graham Fieggen, MD, Sylvia Roozen, PhD, Godfrey P Oakley, Jr, MD, Gail Rosseau, MD, Robert J Berry, MD

    Diterbitkan 2022-07-01
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