検索結果 - Pranoot Tanpaiboon

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  1. 1
    Laboratory diagnostic approaches in metabolic disorders

    Laboratory diagnostic approaches in metabolic disorders 著者: Rubén Bonilla Guerrero, Denise Salazar, Pranoot Tanpaiboon

    出版事項 2018
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  2. 2
    Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction

    Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and imm... 著者: Cindy Li, Ankit K. Desai, Punita Gupta, Katherine Dempsey, Vikas Bhambhani, Robert J. Hopkin, Can Fıçıcıoğlu, Pranoot Tanpaiboon, William J. Craigen, Amy S. Rosenberg, Priya S. Kishnani

    出版事項 2021
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    Artigo
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  3. 3
    Effects of triheptanoin (<scp>UX007</scp>) in patients with long‐chain fatty acid oxidation disorders: Results from an <scp>open‐label</scp>, <scp>long‐term</scp> extension study

    Effects of triheptanoin (<scp>UX007</scp>) in patients with long‐chain fatty acid oxidation disorders: Results from an <scp>open‐label</scp>, <scp>long‐term</scp> extension study... 著者: Jerry Vockley, Barbara K. Burton, Gerard T. Berry, Nicola Longo, John G. Phillips, Amarilis Sanchez‐Valle, Kimberly A. Chapman, Pranoot Tanpaiboon, Stephanie Grünewald, Elaine Murphy, Xiaoxiao Lu, Jason Cataldo

    出版事項 2020
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    Artigo
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  4. 4
    Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

    Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose 著者: Ralph S. Lachman, Barbara K. Burton, Lorne A. Clarke, Scott A. Hoffinger, Shiro Ikegawa, Dong‐Kyu Jin, Hiroki Kano, Ok-Hwa Kim, Christina Lampe, Nancy J. Mendelsohn, Renée Shediac, Pranoot Tanpaiboon, Klane K. White

    出版事項 2014
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    Artigo
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  5. 5
    Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)

    Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)... 著者: Jerry Vockley, Barbara K. Burton, Gerard T. Berry, Nicola Longo, John G. Phillips, Amarilis Sanchez‐Valle, Pranoot Tanpaiboon, Stephanie Grünewald, Elaine Murphy, Alexandra Bowden, Wencong Chen, Chao‐Yin Chen, Jason Cataldo, Deborah Marsden, Emil Kakkis

    出版事項 2019
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    Artigo
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  6. 6
    UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

    UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment 著者: Jerry Vockley, Barbara K. Burton, Gerard T. Berry, Nicola Longo, John G. Phillips, Amarilis Sanchez‐Valle, Pranoot Tanpaiboon, Stephanie Grünewald, Elaine Murphy, Reed Humphrey, J. Mayhew, A. Bowden, L. Zhang, Jason Cataldo, Deborah Marsden, Emil Kakkis

    出版事項 2017
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    Artigo
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  7. 7
    Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease

    Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease 著者: Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier, R. Bradley Troxler, Raymond Wang, Omar Abdul‐Rahman, Pranoot Tanpaiboon, Nancy J. Mendelsohn, Eli Herskovitz, David Kronn, Michal Inbar‐Feigenberg, Catherine Ward‐Melver, Michelle Polan, Punita Gupta, Amy S. Rosenberg, Priya S. Kishnani

    出版事項 2017
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    Artigo
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  8. 8
    De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

    De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function 著者: Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaefer, Janina Gburek‐Augustat, Stephan Züchner, Ingeborg Krägeloh‐Mann, Jonathan Baets, Peter De Jonghe, Peter Bauer, S.R. Wayne Chen, Lüdger Schöls, Rebecca Schüle

    出版事項 2018
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    Artigo
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  9. 9
    Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing

    Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing 著者: Jill L. Maron, Stephen F. Kingsmore, Kristen Wigby, Shimul Chowdhury, David Dimmock, Brenda B. Poindexter, Kristen Suhrie, Jerry Vockley, Thomas G. Diacovo, Bruce D. Gelb, Annemarie Stroustrup, Cynthia M. Powell, Andrea Trembath, Matthew Gallen, Thomas E. Mullen, Pranoot Tanpaiboon, Dallas Reed, Anne Kurfiss, Jonathan M. Davis

    出版事項 2021
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    Artigo
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  10. 10
    Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

    Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction 著者: Priya S. Kishnani, Patricia Dickson, Laurie Muldowney, Jessica J. Lee, Amy S. Rosenberg, Rekha Abichandani, Jeffrey A. Bluestone, Barbara K. Burton, Maureen C. Dewey, Alexandra Freitas, Derek Gavin, Donna Griebel, Melissa Hogan, Steven M. Holland, Pranoot Tanpaiboon, Laurence A. Turka, Jeanine Jarnes Utz, Yow-Ming Wang, Chester B. Whitley, Zoheb B. Kazi, Anne Pariser

    出版事項 2015
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  11. 11
    Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy

    Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy 著者: Shaalee Dworski, Ping Lu, Anzalee Khan, Bruno Maranda, John J. Mitchell, Rossella Parini, Maja Di Rocco, Boris Hügle, Makoto Yoshimitsu, Bo Magnusson, Balahan Makay, Nur Arslan, Norberto Guelbert, Karoline Ehlert, Andrea Jarisch, Janet Gardner‐Medwin, Rawane Dagher, Maria Teresa Terreri, Charles Marques Lorenco, Lilianna Barillas-Arias, Pranoot Tanpaiboon, Alexander Sólyom, James S. Norris, Xingxuan He, Edward H. Schuchman, Thierry Levade, Jeffrey A. Medin

    出版事項 2016
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    Artigo
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  12. 12
    Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

    Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p 著者: Meral Gunay‐Aygun, Yifat Zivony-Elboum, Fatma Gümrük, Dan Geiger, Mualla Çetin, Morad Khayat, Robert Kleta, Nehama Cohen Kfir, Yair Anikster, Judith Chezar, Mauricio Arcos‐Burgos, Adel Shalata, Horia Stanescu, J. Manaster, Mutlu Arat, Hailey Edwards, Andrew A. Freiberg, P. Suzanne Hart, Lauren C. Riney, Katherine A. Patzel, Pranoot Tanpaiboon, Tom Markello, Marjan Huizing, Irina Marić, McDonald K. Horne, Beate E. Kehrel, Kerstin Jurk, Nancy F. Hansen, Praveen F. Cherukuri, MaryPat Jones, Pedro Cruz, Jim Mullikin, Alan T. Nurden, James G. White, William A. Gahl, Tzippora Falik-Zaccai

    出版事項 2010
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    Artigo
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  13. 13
    Noonan syndrome in diverse populations

    Noonan syndrome in diverse populations 著者: Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, S. Arvizu Medrano, Gary Mok, Gordon K. C. Leung, Cedrik Tekendo‐Ngongang, Annette Uwineza, Meow‐Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N. Ekure, Ogochukwu Sokunbi, Nnenna Kalu, Kelly L. Jones, Julie Kaplan, Omar Abdul‐Rahman, Lisa M. Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M. Girisha, Siddaramappa J. Patil, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Rupesh Mishra, Eva Klein‐Zighelboim, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca-Barriga, Steven A. Skinner, Eloise J. Prijoles, Ëben Badoe, Ashleigh D. Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S. Kisling, Carlos R. Ferreira, Léon Mutesa, André Mégarbané, Antonie D. Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antônio Richieri‐Costa, Ambroise Wonkam, Brian Hon‐Yin Chung, Roger E. Stevenson, Marshall Summar, Kausik Mandal, Shubha R. Phadke, María Gabriela Obregón, Marius George Linguraru, Maximilian Muenke

    出版事項 2017
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    Artigo
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  14. 14
    Cornelia de Lange syndrome in diverse populations

    Cornelia de Lange syndrome in diverse populations 著者: Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Ëben Badoe, Meow‐Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S. Nayak, Vorasuk Shotelersuk, André Mégarbané, Shubha R. Phadke, Nirmala D. Sirisena, Vajira H. W. Dissanayake, Carlos R. Ferreira, Monisha S. Kisling, Pranoot Tanpaiboon, Annette Uwineza, Léon Mutesa, Cedrik Tekendo‐Ngongang, Ambroise Wonkam, Karen Fieggen, Letícia Cassimiro Batista, Danilo Moretti‐Ferreira, Roger E. Stevenson, Eloise J. Prijoles, David B. Everman, Kate B. Clarkson, Jessica Worthington, Virginia Kimonis, Fuki M. Hisama, Carol A. Crowe, Paul Wong, Kisha Johnson, Robin D. Clark, Lynne M. Bird, Diane Masser‐Frye, Timothy J. McDonald, Patrick J. Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane‐Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit A. Shalev, Victoria Mok Siu, Neerja Gupta, Madhulika Kabra, Angus Ades, Holly Dubbs, Sarah E. Raible, Maninder Kaur, Emanuela Salzano, Laird S. Jackson, Matthew A. Deardorff, Antonie D. Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D. Krantz

    出版事項 2019
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    Artigo
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  15. 15
    Williams–Beuren syndrome in diverse populations

    Williams–Beuren syndrome in diverse populations 著者: Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary Mok, Cedrik Tekendo‐Ngongang, Karen Fieggen, Eloise J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho‐Ming Luk, Ivan F. M. Lo, Meow‐Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni‐Chung Lee, Saumya Shekhar Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen‐Min, Neerja Gupta, Stephanie Lotz‐Esquivel, Ramsés Badilla‐Porras, Dalia Farouk, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregón, Brian Hon‐Yin Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca-Barriga, André Mégarbané, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, Adebowale Adeyemo, Colleen A. Morris, Danilo Moretti‐Ferreira, Marius George Linguraru, Maximilian Muenke

    出版事項 2018
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  16. 16
    Cover Image, Volume 176A, Number 5, May 2018

    Cover Image, Volume 176A, Number 5, May 2018 著者: Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary Tsz Kin Mok, Cedrik Tekendo‐Ngongang, Karen Fieggen, Eloise J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho‐Ming Luk, Ivan F. M. Lo, Meow‐Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni‐Chung Lee, Saumya Shekhar Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen‐Min, Neerja Gupta, Stephanie Lotz‐Esquivel, Ramsés Badilla‐Porras, Dalia Farouk, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregón, Brian Hon‐Yin Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca-Barriga, André Mégarbané, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, Adebowale Adeyemo, Colleen A. Morris, Danilo Moretti‐Ferreira, Marius George Linguraru, Maximilian Muenke

    出版事項 2018
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    Paratexto
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