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TITLE: Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial  Full Text
AUTHORS: Ania Muntau; Nicola Longo; Fatih Ezgu; Ida Vanessa Schwartz; Melissa Lah; Drago Bratkovic; Lali Margvelashvili; Ertugrul Kiykim; Roberto Zori; Jaume Campistol Plana; Amaya Bélanger Quintana; Allan Lund; Laura Guilder; Anupam Chakrapani; Halise Neslihan Mungan; Arlindo Guimas; Ixiu del Carmen Cabrales Guerra; Anita MacDonald; Kimberly Ingalls; Neil Smith; Stephanie Sacharow; Maria Avanise Yumi Minami; Frank Rutsch; Michel Tchan; Heidi Peters; Aneal Khan; Suresh Vijay; Thomas Opladen; Hope Northrup; Anabela Oliveira; François Feillet; Dodo Agladze; Catalina Hughes; Alexandra Larkin; Sarah Milner; Lan Gao; Rochelle Greenbaum; Zhenming Zhao; ...More
PUBLISHED: 2024, SOURCE: LANCET, VOLUME: 404, ISSUE: 10460
INDEXED IN: Scopus WOS
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TITLE: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3 '-end processing  Full Text
AUTHORS: Makenzie Saoura; Christopher A Powell; Robert Kopajtich; Ahmad Alahmad; Haya H AL Balool; Buthaina Albash; Majid Alfadhel; Charlotte L Alston; Enrico Bertini; Penelope E Bonnen; Drago Bratkovic; Rosalba Carrozzo; Maria A Donati; Michela Di Nottia; Daniele Ghezzi; Amy Goldstein; Eric Haan; Rita Horvath; Joanne Hughes; Federica Invernizzi; Eleonora Lamantea; Benjamin Lucas; Kyla Gaye Pinnock; Maria Pujantell; Shamima Rahman; Pedro Rebelo Guiomar; Saikat Santra; Daniela Verrigni; Robert McFarland; Holger Prokisch; Robert W Taylor; Louis Levinger; Michal Minczuk; ...More
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 10
INDEXED IN: Scopus WOS
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TITLE: Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
AUTHORS: Marisa W Friederich; Sharita Timal; Christopher A Powell; Cristina Dallabona; Alina Kurolap; Sara Palacios Zambrano; Drago Bratkovic; Terry G J Derks; David Bick; Katelijne Bouman; Kathryn C Chatfield; Nadine Damouny Naoum; Megan K Dishop; Tzipora C Falik Zaccai; Fuad Fares; Ayalla Fedida; Ileana Ferrero; Renata C Gallagher; Rafael Garesse; Micol Gilberti; Cristina Gonzalez; Katherine Gowan; Clair Habib; Rebecca K Halligan; Limor Kalfon; Kaz Knight; Dirk Lefeber; Laura Mamblona; Hanna Mandel; Adi Mory; John Ottoson; Tamar Paperna; Ger J M Pruijn; Pedro F Rebelo Guiomar; Ann Saada; Bruno Sainz; Hayley Salvemini; Mirthe H Schoots; Jan A Smeitink; Maciej J Szukszto; Hendrik J ter Horst; Frans van den Brandt; Francjan J van Spronsen; Joris A Veltman; Eric Wartchow; Liesbeth T Wintjes; Yaniv Zohar; Miguel A Fernandez Moreno; Hagit N Baris; Claudia Donnini; Michal Minczuk; Richard J Rodenburg; Johan L K Van Hove; ...More
PUBLISHED: 2018, SOURCE: NATURE COMMUNICATIONS, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus WOS