PranootTanpaiboonMD

PubMed

• Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
  Sharma, R., Kucera, C., Nery, C., Salazar, D., Lacbawan, F., Tanpaiboon, P.> ;Pediatrics International. 2024 Feb 1
• 3 citations
  Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.
  Jerry Vockley, Barbara K Burton, Gerard Berry, Nicola Longo, John Phillips, Amarilis Sanchez-Valle, Kimberly A Chapman, Pranoot Tanpaiboon, Stephanie Grunewald, Elaine...> ;Journal of Inherited Metabolic Disease. 2023 Sep 1
• 4 citations
  Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
  Heather A Lau, David Viskochil, Pranoot Tanpaiboon, Antonio Gonzalez-Meneses Lopez, Esmeralda Martins, Julie Taylor, Betsy Malkus, Lin Zhang, Agnieszka Jurecka, Debora...> ;Molecular Genetics and Metabolism. 2022 May 1
• 12 citations
  Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory.
  Sun Hee Rosenthal, Anna Gerasimova, Rolando Ruiz-Vega, Kayla Livingston, Ron M Kagan, Yan Liu, Ben Anderson, Renius Owen, Laurence Bernstein, Alla Smolgovsky, Dong Xu,...> ;Scientific Reports. 2022 Feb 8
• Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
  Tina Duong, Priya S Kishnani, Kristina An Haack, Meredith C Foster, James B Gibson, Catherine Wilson, Si Houn Hahn, Richard Hillman, David Kronn, Nancy D Leslie, Loren...> ;Journal of Neuromuscular Diseases. 2022 Jan 1
• 5 citations
  Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
  Barry J. Byrne, Steven D. Colan, Priya S. Kishnani, Meredith C. Foster, Susan Sparks, James B. Gibson, Kristina An Haack, David W. Stockton, Loren D.M. Pena, Si Houn H...> ;Cardiology in the Young. 2021 Aug 23
• 4 citations
  Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
  Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Ste...> ;Molecular Genetics and Metabolism Reports. 2021 Mar 3
• 34 citations
  Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infan...
  Jill L. Maron, Stephen F. Kingsmore, Kristen Wigby, Shimul Chowdhury, David Dimmock, Brenda B. Poindexter, Kristen Suhrie, Jerry Vockley, Thomas G. Diacovo, Bruce D. G...> ;JAMA Pediatrics. 2021 Feb 15
• 3 citations
  Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes
  Anne K. Lawrence, Matthew T. Whitehead, Paul Kruszka, Laura Sanapo, Sho Yano, Pranoot Tanpaiboon, Maximilian Muenke, Jamie L. Fraser, Adre J. du Plessis> ;Prenatal Diagnosis. 2021 May 1
• 23 citations
  Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement th...
  Cindy Li, Ankit K. Desai, Punita Gupta, Katherine Dempsey, Vikas Bhambhani, Robert J. Hopkin, Can Ficicioglu, Pranoot Tanpaiboon, William J. Craigen, Amy S. Rosenberg,...> ;Genetics in Medicine. 2021 Jan 25
• 5 citations
  Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
  Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ah...> ;BMC Pediatrics. 2021 Jan 7
• 1 citations
  A patient with atypical presentation of chronic hepatosteatosis harboring a novel variant in the CPT1A gene.
  Ponghatai Boonsimma, Kathleen Crosby, Parvathi Mohan, Elena Puscasiu, Pranoot Tanpaiboon> ;European Journal of Medical Genetics. 2021 Jan 1
• 30 citations
  Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study
  Jerry Vockley, Barbara K. Burton, Gerard T. Berry, Nicola Longo, John A. Phillips, Amarilis Sanchez-Valle, Kimberly Chapman, Pranoot Tanpaiboon, Stephanie Grunewald, E...> ;Journal of Inherited Metabolic Disease. 2021 Jan 1
• 20 citations
  Missense variant contribution to USP9X-female syndrome
  Lachlan A. Jolly, Euan Parnell, Alison Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine E. Keegan, Michael C. Schneider, Emily Griff...> ;NPJ Genomic Medicine. 2020 Dec 9
• Noonan Syndrome in Thai Children.
  Nonglak Boonchooduang, Orawan Louthrenoo, Pranoot Tanpaiboon> ;Indian Pediatrics. 2020 Oct 15
• 11 citations
  GARS- related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment
  Rebecca Markovitz, Rajarshi Ghosh, Molly E. Kuo, William Hong, Jaehyung Lim, Saunder Bernes, Stephanie Manberg, Kathleen Crosby, Pranoot Tanpaiboon, Diana Bharucha-Goe...> ;American Journal of Medical Genetics. Part A. 2020 Mar 17
• 6 citations
  Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
  Priya S. Kishnani, James B. Gibson, Michael J. Gambello, Richard Hillman, David W. Stockton, David Kronn, Nancy D. Leslie, Loren D.M. Pena, Pranoot Tanpaiboon, John W....> ;Genetics in Medicine. 2019 May 14
• 26 citations
  An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-ons...
  Zoheb B. Kazi, Ankit K. Desai, R. Bradley Troxler, David Kronn, Seymour Packman, Marta Sabbadini, William B. Rizzo, Katalin Scherer, Omar A. Abdul-Rahman, Pranoot Tanp...> ;Genetics in Medicine. 2019 Apr 1
• 3 citations
  Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII
  Piranit Nik Kantaputra, Lachlan J. Smith, Margret L. Casal, Chulaluck Kuptanon, Yu‐Cheng Chang, Sheela Nampoothiri, Apichai Paiyarom, Thanat Veerasakulwong, Objoon Tra...> ;American Journal of Medical Genetics. Part A. 2019 Mar 1
• 29 citations
  Cornelia de Lange syndrome in diverse populations
  Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, E.V. Badoe, Meow-Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S...> ;American Journal of Medical Genetics. Part A. 2019 Feb 1
• 21 citations
  Laboratory diagnostic approaches in metabolic disorders
  Ruben Bonilla Guerrero, Denise Salazar, Pranoot Tanpaiboon> ;Annals of Translational Medicine. 2018 Dec 1
• 34 citations
  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 (L...
  Jerry Vockley, Barbara K. Burton, Gerard T. Berry, Nicola Longo, John A. Phillips, Amarilis Sanchez-Valle, Pranoot Tanpaiboon, Stephanie Grunewald, Elaine Murphy, Alex...> ;Journal of Inherited Metabolic Disease. 2018 Jul 9
• 30 citations
  De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
  Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaef...> ;European Journal of Human Genetics. 2018 Jun 20
• 48 citations
  Williams–Beuren syndrome in diverse populations
  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 T. K. ...> ;American Journal of Medical Genetics. Part A. 2018 May 1
• 19 citations
  Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phas...
  Si Houn Hahn, David Kronn, Nancy D. Leslie, Loren D.M. Pena, Pranoot Tanpaiboon, Michael J. Gambello, James B. Gibson, Richard Hillman, David W. Stockton, John W. Day,...> ;Genetics in Medicine. 2018 Mar 22
• Join now to see all