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Mojca Zerjav Tansek Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Ana Bertoncel University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Brina Sebez University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Janez Zibert Centre for Health Informatics and Statistics, Faculty of Health Sciences, University of Ljubljana, Ljubljana, Slovenia

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Urh Groselj Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Tadej Battelino Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Magdalena Avbelj Stefanija Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Introduction Phenylketonuria (PKU) (OMIM 261600) is an autosomal recessive genetic disease caused by insufficient activity of the enzyme phenylalanine hydroxylase, which catalyzes the transformation of phenylalanine (Phe) to tyrosine (Tyr

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0214
Volume/Issue:
Volume 9: Issue 7
Open access
Chunyun Fu Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Shiyu Luo Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yingfeng Li Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Qifei Li Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xuehua Hu Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Mengting Li Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yue Zhang Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jiasun Su Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xuyun Hu Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yun Chen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jin Wang Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Bobo Xie Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jingsi Luo Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xin Fan Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Shaoke Chen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yiping Shen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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Medical Journal 2012 125 702 – 704 . 22490499 7 Gu XF Wang ZG . Screening for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China . Zhonghua Yu Fang Yi Xue Za Zhi 2004 38 99 – 102 . ( doi:10.3760/j:issn:0253

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0289
Volume/Issue:
Volume 6: Issue 8
Open access
Martin Bidlingmaier Medizinische Klinik und Poliklinik IV, LMU Klinikum, Ludwig-Maximilians University, Munich, Germany

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Helena Gleeson Department of Endocrinology, Queen Elizabeth Hospital, Birmingham, UK

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Ana-Claudia Latronico Department of Internal Medicine, Discipline of Endocrinology and Metabolism, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil

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Martin O Savage Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK

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phenylketonuria, an implantable cardioverter-defibrillator to correct cardiac arrhythmias associated with Brugada syndrome and early initiation of colonoscopic surveillance to detect bowel cancer in patients with Lynch syndrome ( 20 ). Genetic approaches to

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0177
Volume/Issue:
Volume 11: Issue 10
Open access