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收藏分享 收藏 Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria
Sacharow, Stephanie; Muntau, Ania C.; Bratkovic, Drago; Margvelashvili, Lali; Agladze, Dodo; Guilder, Laura; Schwartz, Ida Vanessa D.; Minami, Maria Avanise Yumi; Kiykim, Ertugrul; Guerra, Ixiu del Carmen Cabrales; Zori, Roberto; Campistol, Jaume; Oliveira, Anabela; Janeiro, Patricia; Rutsch, Frank; Lund, Allan; Mungan, Halise; Vijay, Suresh; MacDonald, Anita; Chakrapani, Anupam; Opladen, Thomas; Tchan, Michel; Ingalls, Kimberly; Hughes, Catalina; Zhao, Zhenming; Larkin, Alexandra; Smith, Neil; Lah, Melissa 分享 收藏 Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UKCarling, Rachel S.; Hedgethorne, Katy; Chakrapani, Anupam; Hall, Patricia L.; Flynn, Nick; Greenfield, Toby; Moat, Stuart J.; Ssali, Joshua; Shakespeare, Lynette; Taj, Nazia; Wu, Teresa H. Y.; Anderson, Mark; Ghosh, Arunabha; Lemonde, Hugh; Pierre, Germaine; Sharrard, Mark; Sreekantam, Sreevidya; Bonham, James R. 分享 收藏 Management of B-cell lineage acute lymphoblastic leukemia: expert opinion from an Indian panel via Delphi consensus methodMathews, Vikram; Korula, Anu; Chakrapani, Anupam; Bhurani, Dinesh; Bhattacharyya, Jina; Sengar, Manju; Malhotra, Pankaj; Boyella, Pavan Kumar; Singh, Pawan Kumar; Ganesan, Prasanth; Dhawan, Rishi; Melinkeri, Sameer; Damodar, Sharat; Dolai, Tuphan Kanti; Radhakrishnan, Venkatraman 分享 收藏 Preclinical validation and treatment of volumetric modulated arc therapy based total bone marrow irradiation in Halcyon™ ring gantry linear acceleratorShahid, Tanweer; Mandal, Sourav; Biswal, Subhra Snigdha; De, Arundhati; Mukherjee, Mukti; Chowdhury, Sandipan Roy; Chakrapani, Anupam; George, Kirubha; Bhattacharya, Jibak; Soren, Prosenjit; Ghosh, Tanmoy; Sarkar, Biplab; Cozzi, Luca 分享 收藏 A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening ProgrammesBurlina, Alberto; Jones, Simon A.; Chakrapani, Anupam; Church, Heather J.; Heales, Simon; Wu, Teresa H. Y.; Morton, Georgina; Roberts, Patricia; Sluys, Erica F.; Cheillan, David 分享 收藏 Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across EuropeJones, Simon A.; Cheillan, David; Chakrapani, Anupam; Church, Heather J.; Heales, Simon; Wu, Teresa H. Y.; Morton, Georgina; Roberts, Patricia; Sluys, Erica F.; Burlina, Alberto 分享 收藏 Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approachLanar, Sally; Parker, Samantha; O'Neill, Cara; Marrel, Alexia; Arnould, Benoit; Heron, Benedicte; Muschol, Nicole; Wijburg, Frits A.; Chakrapani, Anupam; Olivier, Sophie; Aiach, Karen 分享 收藏 An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIAWijburg, Frits A.; Aiach, Karen; Chakrapani, Anupam; Eisengart, Julie B.; Giugliani, Roberto; Heron, Benedicte; Muschol, Nicole; O'Neill, Cara; Olivier, Sophie; Parker, Samantha 分享 收藏 Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraForny, Patrick; Footitt, Emma; Davison, James E.; Lam, Amanda; Woodward, Cathy E.; Batzios, Spyros; Bhate, Sanjay; Chakrapani, Anupam; Cleary, Maureen; Gissen, Paul; Grunewald, Stephanie; Hurst, Jane A.; Scott, Richard; Heales, Simon; Jacques, Thomas S.; Cullup, Thomas; Rahman, Shamima 分享 收藏 分享 收藏 Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in EnglandBroomfield, A.; Davison, J.; Roberts, J.; Stewart, C.; Hensman, P.; Beesley, C.; Tylee, K.; Rust, S.; Schwahn, B.; Jameson, E.; Vijay, S.; Santra, S.; Sreekantam, S.; Ramaswami, U.; Chakrapani, A.; Raiman, J.; Cleary, M. A.; Jones, S. A. 分享 收藏 Phase 2-3 gene therapy trial using adeno-associated virus vector for patients with mucopolysaccharidosis type IIIAWijburg, Frits; Aquilina, Kristian; Heron, Benedicte; Cha-Krapani, Anupam; Crystal, Ron; de Saint Denis, Timothee; Emrick, Lisa; Guillaume, Daniel; Muschol, Nicole; Souweidane, Marc; Wang, Raymond; Zerah, Michel; Whitley, Chester; Olivier, Sophie 分享 收藏 The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiencyKeshavan, Nandaki; Abdenur, Jose; Anderson, Glenn; Assouline, Zahra; Barcia, Giulia; Bouhikbar, Lamia; Chakrapani, Anupam; Cleary, Maureen; Cohen, Marta C.; Feillet, Francois; Fratter, Carl; Hauser, Natalie; Jacques, Tom; Lam, Amanda; McCullagh, Helen; Phadke, Rahul; Rotig, Agnes; Sharrard, Mark; Simon, Mariella; Smith, Conrad; Sommerville, Ewen W.; Taylor, Robert W.; Yue, Wyatt W.; Rahman, Shamima 分享 收藏 Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic AdjustmentBaruteau, Julien; Khalil, Youssef; Grunewald, Stephanie; Zancolli, Marta; Chakrapani, Anupam; Cleary, Maureen; Davison, James; Footitt, Emma; Waddington, Simon N.; Gissen, Paul; Mills, Philippa 分享 收藏 分享 收藏 分享 收藏 Design, baseline characteristics, and 18-24 months follow-up from the MPS MA natural history studyWijburg, Frits; Parker, Samantha; Drevot, Philippe; Le Meur, Alice; Chakrapani, Anupam; Coutinho, Virginie; Diehl, Thilo; Giugliani, Roberto; Heron, Benedicte; Marchal, Jan Pieter; Muschol, Nicole; Newsom-Davies, Imogen; Pereze, Anna; Perrone, Solanger; Olivier, Sophie 分享 收藏 Retrospective natural history of thymidine kinase 2 deficiencyGarone, Caterina; Taylor, Robert W.; Nascimento, Andres; Poulton, Joanna; Fratter, Carl; Dominguez-Gonzalez, Cristina; Evans, Julie C.; Loos, Mariana; Isohanni, Pirjo; Suomalainen, Anu; Ram, Dipak; Hughes, M. Imelda; McFarland, Robert; Barca, Emanuele; Gomez, Carlos Lopez; Jayawant, Sandeep; Thomas, Neil D.; Manzur, Adnan Y.; Kleinsteuber, Karin; Martin, Miguel A.; Kerr, Timothy; Gorman, Grainne S.; Sommerville, Ewen W.; Chinnery, Patrick F.; Hofer, Monika; Karch, Christoph; Ralph, Jeffrey; Camara, Yolanda; Madruga-Garrido, Marcos; Dominguez-Carral, Jana; Ortez, Carlos; Emperador, Sonia; Montoya, Julio; Chakrapani, Anupam; Kriger, Joshua F.; Schoenaker, Robert; Levin, Bruce; Thompson, John L. P.; Long, Yuelin; Rahman, Shamima; Donati, Maria Alice; DiMauro, Salvatore; Hirano, Michio 分享 收藏 
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