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TÍTULO: Meta-analysis of bone mineral density in adults with phenylketonuria  Full Text
AUTORES: Rocha, Julio C.; Hermida, Alvaro; Jones, Cheryl J.; Wu, Yunchou; Clague, Gillian E.; Rose, Sarah; Whitehall, Kaleigh B.; Ahring, Kirsten K.; Pessoa, Andre L. S.; Harding, Cary O.; Rohr, Fran; Inwood, Anita; Longo, Nicola; Muntau, Ania C.; Sivri, Serap; Maillot, Francois;
PUBLICAÇÃO: 2024, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 19, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: 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
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2024, FONTE: LANCET, VOLUME: 404, NÚMERO: 10460
INDEXADO EM: Scopus WOS
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TÍTULO: Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach  Full Text
AUTORES: Burton, Barbara K.; Hermida, Alvaro; Belanger Quintana, Amaya; Bell, Heather; Bjoraker, Kendra J.; Christ, Shawn E.; Grant, Mitzie L.; Harding, Cary O.; Huijbregts, Stephan C. J.; Longo, Nicola; McNutt, Markey C. I. I. I. I.; Nguyen Driver, Mina D.; Pessoa, Andre L. Santos; Rocha, Julio Cesar; Sacharow, Stephanie; Sanchez Valle, Amarilis; Sivri, H. Serap; Vockley, Jerry; Walterfang, Mark; Whittle, Sarah; Muntau, Ania C.; ...Mais
PUBLICAÇÃO: 2022, FONTE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 137, NÚMERO: 1-2
INDEXADO EM: Scopus WOS
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TÍTULO: Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators  Full Text
AUTORES: Ania C Muntau; Joo Leandro; Michael Staudigl; Felix Mayer; Soren W Gersting;
PUBLICAÇÃO: 2014, FONTE: 12th International Congress of Inborn Errors of Metabolism (ICIEM) in JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef