P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425009306 |
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| author | Nicola Longo Francjan van Spronsen Ania Muntau Lali Margvelashvili Heidi Peters Ida Vanessa Schwartz Takashi Hamazaki Maria Avanise Yumi Minami Laura Guilder Drago Bratkovic Melissa Lah Janet Thomas Frank Rutsch Ertugrul Kiykim Roberto Zori Mika Ishige Kimberly Ingalls Catalina Hughes Lan Gao Zhenming Zhao Neil Smith |
| author_facet | Nicola Longo Francjan van Spronsen Ania Muntau Lali Margvelashvili Heidi Peters Ida Vanessa Schwartz Takashi Hamazaki Maria Avanise Yumi Minami Laura Guilder Drago Bratkovic Melissa Lah Janet Thomas Frank Rutsch Ertugrul Kiykim Roberto Zori Mika Ishige Kimberly Ingalls Catalina Hughes Lan Gao Zhenming Zhao Neil Smith |
| author_sort | Nicola Longo |
| collection | DOAJ |
| format | Article |
| id | doaj-art-55883dbc9bd5459e80217c157d0455ab |
| institution | DOAJ |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-55883dbc9bd5459e80217c157d0455ab2025-08-20T03:13:54ZengElsevierGenetics in Medicine Open2949-77442025-01-01310289110.1016/j.gimo.2025.102891P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuriaNicola Longo0Francjan van Spronsen1Ania Muntau2Lali Margvelashvili3Heidi Peters4Ida Vanessa Schwartz5Takashi Hamazaki6Maria Avanise Yumi Minami7Laura Guilder8Drago Bratkovic9Melissa Lah10Janet Thomas11Frank Rutsch12Ertugrul Kiykim13Roberto Zori14Mika Ishige15Kimberly Ingalls16Catalina Hughes17Lan Gao18Zhenming Zhao19Neil Smith20Department of Human Genetics, University of California Los Angeles, CADivision of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center of GroningenUniversity Children’s Hospital, University Medical Center Hamburg Eppendorf, GermanyPediatric Surgery Center, Tbilisi, GeorgiaDepartment of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC, AustraliaHospital de Clinicas de Porto Alegre, Porto Alegre, BrazilDepartment of Pediatrics, Graduate School of Medicine, Osaka Metropolitan University, Osaka, JapanHospital Das Clinicas Da Faculdade De Medicina De Ribeirao Preto, Ribeiraro Preto, BrazilThe Hospital for Sick Children, Toronto, ON, CanadaPARC Clinical Research, Adelaide, SA, Australia, Department of Medical and Molecular GeneticsDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, INUniversity of Colorado, Department of Pediatrics, Section of Clinical Genetics and MetabolismDepartment of General Pediatrics, Muenster University Children's Hospital, Muenster, GermanyIstanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, TurkiyeDepartment of Pediatrics, University of Florida College of Medicine, Gainesville, FLDepartment of Pediatrics and Child Health, Nihon University School of MedicinePTC Therapeutics Inc, Warren, NJPTC Therapeutics Inc, Warren, NJPTC Therapeutics Inc, Warren, NJPTC Therapeutics Inc, Warren, NJPTC Therapeutics Inc, Warren, NJhttp://www.sciencedirect.com/science/article/pii/S2949774425009306 |
| spellingShingle | Nicola Longo Francjan van Spronsen Ania Muntau Lali Margvelashvili Heidi Peters Ida Vanessa Schwartz Takashi Hamazaki Maria Avanise Yumi Minami Laura Guilder Drago Bratkovic Melissa Lah Janet Thomas Frank Rutsch Ertugrul Kiykim Roberto Zori Mika Ishige Kimberly Ingalls Catalina Hughes Lan Gao Zhenming Zhao Neil Smith P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria Genetics in Medicine Open |
| title | P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria |
| title_full | P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria |
| title_fullStr | P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria |
| title_full_unstemmed | P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria |
| title_short | P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria |
| title_sort | p047 interim results from the aphenity extension study sepiapterin reduces blood phe with improved dietary phe tolerance in participants with phenylketonuria |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425009306 |
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