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.

Autor: Muntau AC; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; German Center for Child and Adolescent Health (DZKJ), Hamburg, Germany. Electronic address: muntau@uke.de., Longo N; Department of Human Genetics, University of California Los Angeles, Los Angeles, CA, USA., Ezgu F; Departments of Pediatric Metabolic and Genetic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye., Schwartz IVD; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Lah M; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Bratkovic D; Metabolic Unit, Women's and Children's Hospital, North Adelaide, SA, Australia., Margvelashvili L; Pediatric Surgery Center, Tbilisi, Georgia., Kiykim E; İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi, Istanbul, Türkiye., Zori R; Department of Pediatrics, University of Florida College of Medicine, Tallahassee, FL, USA., Campistol Plana J; Hospital San Joan de Déu, Barcelona, Spain., Bélanger-Quintana A; Hospital Universitario Ramón y Cajal, Madrid, Spain., Lund A; Centre of Inherited Metabolic Diseases, Department of Pediatrics and Clinical Genetic, Copenhagen University Hospital, Copenhagen, Denmark., Guilder L; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto and The Hospital for Sick Children, Toronto, ON, Canada., Chakrapani A; Great Ormond Street Hospital, London, UK., Mungan HN; Çukurova Üniversitesi Tıp Fakültesi Balcalı Hastanesi, Adana, Türkiye., Guimas A; Centro Hospitalar Universitário Do Porto, Epe Porto, Douro Litoral, Portugal., Cabrales Guerra IDC; PanAmerican Clinical Research, Guadalajara, Mexico., MacDonald A; Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., Ingalls K; PTC Therapeutics, Warren, NJ, USA., Smith N; PTC Therapeutics, Warren, NJ, USA.

Publikováno v: Lancet (London, England) [Lancet] 2024 Oct 05; Vol. 404 (10460), pp. 1333-1345.

Safety of COVID-19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation.

Autor: Zubarioglu T; Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Oral-Cebeci S; Department of Pediatrics, Division of Pediatric Emergency, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Hopurcuoglu D; Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Uygur E; Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Ahmadzada S; Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Uzunyayla-Inci G; Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Oge-Enver E; Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Akca S; Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Aghalarov M; Department of Pediatrics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Yilmaz G; Department of Pediatrics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Kiykim E; Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Aktuglu-Zeybek C; Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.

Publikováno v: Journal of paediatrics and child health [J Paediatr Child Health] 2023 Jan; Vol. 59 (1), pp. 41-46. Date of Electronic Publication: 2022 Sep 29.

Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11.

Autor: Uzunyayla-Inci G; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Kiykim E; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Zubarioglu T; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Yesil G; Department of Medical Genetics, İstanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Aktuglu Zeybek C; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey.

Publikováno v: Molecular syndromology [Mol Syndromol] 2023 Oct; Vol. 14 (5), pp. 428-432. Date of Electronic Publication: 2023 Apr 21.

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Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.

Autor: Arslan N; Division of Pediatric Metabolism, Department of Pediatrics, Dokuz Eylul University Faculty of Medicine, Izmir, Türkiye., Coker M; Division of Pediatric Metabolism, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Türkiye., Gokcay GF; Division of Pediatric Metabolism, Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Türkiye., Kiykim E; Division of Pediatric Metabolism, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Onenli Mungan HN; Division of Pediatric Metabolism, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Türkiye., Ezgu F; Division of Pediatric Metabolism and Pediatric Genetics, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Türkiye.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2023 Jun 26; Vol. 11, pp. 1113422. Date of Electronic Publication: 2023 Jun 26 (Print Publication: 2023).