换一批Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.
第一作者：
Francjan,van Spronsen
第一单位：
Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: f.j.van.spronsen@umcg.nl.
作者：
Francjan,van Spronsen [1]
;
Heidi,Peters [2]
;
Lali,Margvelashvili [3]
;
Dodo,Agladze [4]
;
Ida Vanessa D,Schwartz [5]
;
Maria,Giżewska [6]
;
Takashi,Hamazaki [7]
;
Laura,Guilder [8]
;
Anita,MacDonald [9]
;
Suresh,Vijay [10]
;
Anita,Inwood [11]
;
Maria,Minami [12]
;
Olivia,Fjellbirkeland [13]
;
Allan,Lund [14]
;
Melissa,Lah [15]
;
Janet A,Thomas [16]
;
Nicola,Longo [17]
;
Ertuğrul,Kiykim [18]
;
Mika,Ishige [19]
;
Alberto,Burlina [20]
;
Amaya,Bélanger-Quintana [21]
;
Frank,Rutsch [22]
;
Thomas,Opladen [23]
;
Halise,Mungan [24]
;
Fatih,Ezgü [25]
;
Drago,Bratkovic [26]
;
Anupam,Chakrapani [27]
;
Tetsuya,Ito [28]
;
Arlindo,Guimas [29]
;
Roberto,Zori [30]
;
Michel,Tchan [31]
;
Stephanie,Sacharow [32]
;
Anabela,Oliveira [33]
;
Patricia,Janeiro [34]
;
Ixiu-Cabrales,Guerra [35]
;
Jaume Campistol,Plana [36]
;
Yılmaz,Yıldız [37]
;
Ebru,Canda [38]
;
Aneal,Khan [39]
;
Jerry,Vockley [40]
;
Margo Sheck,Breilyn [41]
;
Filippo,Manti [42]
;
Alex,Larkin [43]
;
Catalina,Hughes [43]
;
Emelline,Liu [43]
;
Lan,Gao [43]
;
Kimberly,Ingalls [43]
;
Neil,Smith [43]
;
Ania C,Muntau [44]
作者单位：
Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: f.j.van.spronsen@umcg.nl.
[1]
Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia.
[2]
Pediatric Surgery Center, Tbilisi, Georgia.
[3]
Research Institute of Clinical Medicine, Tbilisi, Georgia; School of Medicine, New Vision University, Tbilisi, Georgia; Pediatric Surgery Center (KidCo), Tbilisi, Georgia.
[4]
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
[5]
Department of Pediatrics, Rare Diseases and Metabolic Medicine, Pomeranian Medical University in Szczecin, Szczecin, Poland.
[6]
Department of Pediatrics, Graduate School of Medicine, Osaka Metropolitan University, Osaka, Japan.
[7]
Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto and The Hospital for Sick Children, Toronto, ON, Canada.
[8]
Department of Dietetics, Birmingham Children's Hospital, Birmingham, United Kingdom.
[9]
Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom.
[10]
Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, South Brisbane, QLD, Australia.
[11]
Divisão de Neurologia, Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto, Brazil.
[12]
Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark.
[13]
Center of Inherited Metabolic Diseases, Department of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
[14]
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
[15]
University of Colorado School of Medicine, Department of Pediatrics, Section of Clinical Genetics and Metabolism, Aurora, CO.
[16]
Division of Clinical Genetics, Department of Human Genetics, University of California Los Angeles, Los Angeles, CA.
[17]
Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Department of Pediatrics, Istanbul, Türkiye.
[18]
Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
[19]
Division of Inherited Metabolic Diseases, University Hospital of Padua, Padua, Italy.
[20]
Unidad Enfermedades Metabolicas, CSUR, CIBERER, Servicio de Pediatria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
[21]
Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
[22]
Division of Pediatric Neurology and Metabolic Medicine, Department I, Center for Pediatric and Adolescent Medicine, Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany.
[23]
Çukurova Üniversitesi Tıp, Fakültesi Balcalı Hastanesi, Adana, Türkiye.
[24]
Departments of Pediatric Metabolic and Genetic Disorders, Faculty of Medicine, Gazi University, Ankara, Türkiye.
[25]
Metabolic Unit, Women's and Children's Hospital, North Adelaide, SA, Australia.
[26]
Department of Metabolic Medicine, Great Ormond Street Hospital, London, United Kingdom.
[27]
Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
[28]
Departamento de Medicina, Centro Hospitalar Universitário Do Porto, Porto, Portugal.
[29]
Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL.
[30]
Department of Genetic Medicine, Westmead Hospital, Sydney, NSW, Australia.
[31]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
[32]
Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
[33]
Reference Center for Metabolic Diseases, Department of Pediatrics, Hospital Santa Maria, Unidade Local de Saúde Santa Maria, Lisbon, Portugal; Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
[34]
PanAmerican Clinical Research, Guadalajara, Mexico.
[35]
Congenital Metabolic Diseases Unit, Hospital San Joan de Déu, Barcelona, Spain.
[36]
Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
[37]
Division of Metabolism and Nutrition, Department of Pediatrics, Ege University Medical Faculty, Izmir, Türkiye.
[38]
MAGIC Clinic, Calgary, AB, Canada.
[39]
Department of Human Genetics, University of Pittsburgh Schools of Medicine and Public Health, Pittsburgh, PA.
[40]
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
[41]
Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
[42]
PTC Therapeutics, Inc, Warren, NJ.
[43]
University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany and German Center of Child and Adolescent Health (DZKJ), Hamburg, Germany.
[44]
医学主题词
人类(Humans);苯丙酮尿症(Phenylketonurias);苯丙氨酸(Phenylalanine);女(雌)性(Female);男(雄)性(Male);儿童(Child);青少年(Adolescent);成年人(Adult);蝶呤类(Pterins);儿童, 学龄前(Child, Preschool);中年人(Middle Aged);青年人(Young Adult);婴儿(Infant);治疗结果(Treatment Outcome)
DOI
10.1016/j.gim.2026.101683
PMID
41537382
发布时间
2026-04-11
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Genetics in medicine
Genetics in medicine
101683页
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