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: 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
Format: Article
Language:English
Published: Elsevier 2025-01-01
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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