Výsledky vyhledávání - Kimiyo Raymond

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  1. 1
    Estudo de prevalência em recém-nascidos por deficiência de biotinidase

    Estudo de prevalência em recém-nascidos por deficiência de biotinidase Autor Anna Pinto, Kimiyo Raymond, Isac Bruck, Sérgio Antônio Antoniuk

    Vydáno 1998
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  2. 2
    Neonatal screening for biotinidase deficiency

    Neonatal screening for biotinidase deficiency Autor Anna Pinto, Kimiyo Raymond, Isac Bruck, Sérgio Antônio Antoniuk

    Vydáno 1998
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  3. 3
    Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy

    Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy Autor Noemi Vidal‐Folch, Dimitar Gavrilov, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Dietrich Matern, Devin Oglesbee

    Vydáno 2018
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  4. 4
    Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype

    Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further e... Autor Rodrigo Tzovenos Starosta, Jessica M. Tarnowski, Filippo Pinto e Vairo, Kimiyo Raymond, Graeme Preston, Éva Morava

    Vydáno 2020
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  5. 5
    Combined liver–kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

    Combined liver–kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature Autor Peter J. Mc Guire, Elizabeth Lim-Melia, George A. Díaz, Kimiyo Raymond, Alexandra Larkin, Melissa Wasserstein, Claude Sansaricq

    Vydáno 2007
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  6. 6
    Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

    Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots Autor Coleman Turgeon, Mark J Magera, Pierre Allard, Silvia Tortorelli, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Dietrich Matern

    Vydáno 2008
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  7. 7
    Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

    Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy Autor Amy Yang, Bobby G. Ng, Steven A. Moore, Jeffrey S. Rush, Charles J. Waechter, Kimiyo Raymond, Tobias Willer, Kevin P. Campbell, Hudson H. Freeze, Lakshmi Mehta

    Vydáno 2013
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  8. 8
    Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

    Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease Autor Silvia Tortorelli, Jason S. Eckerman, Joseph J. Orsini, Colleen F. Stevens, Jeremy Hart, Patricia Hall, John Alexander, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo

    Vydáno 2017
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  9. 9
    Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

    Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follo... Autor Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Döederlein Schwartz, Éva Morava

    Vydáno 2021
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  10. 10
    DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

    DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation Autor Melanie A. Jones, Bobby Ng, Shruti Bhide, Ephrem Chin, Devin Rhodenizer, Ping He, Marie‐Estelle Losfeld, Miao He, Kimiyo Raymond, Gerard T. Berry, Hudson H. Freeze, Madhuri Hegde

    Vydáno 2012
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  11. 11
    Precision newborn screening for lysosomal disorders

    Precision newborn screening for lysosomal disorders Autor Melissa M. Minter Baerg, Stephanie D. Stoway, Jeremy Hart, Lea Mott, Dawn Peck, Stephanie L. Nett, Jason S. Eckerman, Jean M. Lacey, Coleman Turgeon, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Dietrich Matern, Lars Mørkrid, Piero Rinaldo

    Vydáno 2017
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  12. 12
    Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

    Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation Autor Bobby G. Ng, Gege Xu, Nandini Chandy, Joan Steyermark, Deepali N. Shinde, Kelly Radtke, Kimiyo Raymond, Carlito B. Lebrilla, Ali Alasmari, Sharon F. Suchy, Zöe Powis, Eissa Faqeih, Susan A. Berry, David F. Kronn, Hudson H. Freeze

    Vydáno 2018
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  13. 13
    A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies

    A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate I... Autor Wenyue Zhang, Philip James, Bobby G. Ng, Xueli Li, Baoyun Xia, Rong Jiang, Ghazia Asif, Kimiyo Raymond, Melanie A. Jones, Madhuri Hegde, Tongzhong Ju, Richard D. Cummings, Katie Clarkson, Tim Wood, Cornelius F. Boerkoel, Hudson H. Freeze, Miao He

    Vydáno 2015
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  14. 14
    Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

    Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I Autor Dawn Peck, Jean M. Lacey, Amy White, Gisele Pino, April Studinski, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J. Austin Hamm, Brianna K. Murray, Kelly L. Jones, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo, Silvia Tortorelli

    Vydáno 2020
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  15. 15
    Expanding the Molecular and Clinical Phenotype of SSR4-CDG

    Expanding the Molecular and Clinical Phenotype of SSR4-CDG Autor Bobby G. Ng, Kimiyo Raymond, Martin Kircher, Kati J. Buckingham, Tim Wood, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Jonathan T.S. Wong, Fabíola Paoli Monteiro, Brett H. Graham, Sheryl Jackson, Rebecca Sparkes, Angela E. Scheuerle, Sara Cathey, Fernando Kok, James B. Gibson, Hudson H. Freeze

    Vydáno 2015
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  16. 16
    Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

    Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation Autor Bobby G. Ng, Kati J. Buckingham, Kimiyo Raymond, Martin Kircher, Emily H. Turner, Miao He, Joshua D. Smith, Alexey M. Eroshkin, Marta Szybowska, Marie E. Losfeld, Jessica X. Chong, Mariya Kozenko, Chumei Li, Marc C. Patterson, Rodney D. Gilbert, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Hudson H. Freeze

    Vydáno 2013
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  17. 17
    The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

    The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease Autor Adam J. Guenzel, Coleman Turgeon, Kim K. Nickander, Amy White, Dawn Peck, Gisele Pino, April Studinski, Vinod K. Prasad, Joanne Kurtzberg, Maria L. Escolar, Maria Laura Duque Lasio, Joan E. Pellegrino, Ai Sakonju, Rachel Hickey, Natalie Shallow, Margie Ream, Joseph J. Orsini, Michael H. Gelb, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Silvia Tortorelli, Dietrich Matern

    Vydáno 2020
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  18. 18
    Sorbitol Is a Severity Biomarker for <scp>PMM2‐CDG</scp> with Therapeutic Implications

    Sorbitol Is a Severity Biomarker for <scp>PMM2‐CDG</scp> with Therapeutic Implications Autor Anna N. Ligezka, Silvia Radenkovic, Mayank Saraswat, Kishore Garapati, Wasantha Ranatunga, Wirginia Krzyściak, Hitoshi Yanaihara, Graeme Preston, William Brucker, Renee M. McGovern, Joel M. Reid, David Cassiman, Karthik Muthusamy, Christin Johnsen, Saadet Mercimek‐Andrews, Austin Larson, Christina Lam, Andrew C. Edmondson, Bart Ghesquière, Peter Witters, Kimiyo Raymond, Devin Oglesbee, Akhilesh Pandey, Ethan Perlstein, Tamás Kozicz, Éva Morava

    Vydáno 2021
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  19. 19
    Fractionated plasma N‐glycan profiling of novel cohort of <scp>ATP6AP1‐CDG</scp> subjects identifies phenotypic association

    Fractionated plasma N‐glycan profiling of novel cohort of <scp>ATP6AP1‐CDG</scp> subjects identifies phenotypic association Autor Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene J. Chang, Dana Goldner, Bobby G. Ng, Peter Witters, Amal Aqul, Frances Velez‐Bartolomei, Gregory M. Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Marques Lourenço, Sheri A. Poskanzer, Sara K. Rasmussen, Katelyn M. Saarela, YunZu Michele Wang, Kimiyo Raymond, Matthew Schultz, Hudson H. Freeze, Christina Lam, Andrew C. Edmondson, Miao He

    Vydáno 2023
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  20. 20
    Oral D-galactose supplementation in PGM1-CDG

    Oral D-galactose supplementation in PGM1-CDG Autor Sunnie Wong, Therese Gadomski, Monique van Scherpenzeel, Tomáš Honzík, Hana Hansíková, Katja S. Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut‐Cegielska, Dieter Koch, Jozef Hertecant, Graeme Preston, Jaak Jaeken, Nicky Peeters, Stefanie Perez, David D Nguyen, Kea Crivelly, Tim L. Emmerzaal, K. Michael Gibson, Kimiyo Raymond, Nurulamin Abu Bakar, François Foulquier, Gernot Poschet, Amanda M. Ackermann, Miao He, Dirk J. Lefeber, Christian Thiel, Tamás Kozicz, Éva Morava

    Vydáno 2017
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