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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
Iben Rix Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
Zealand Pharma A/S, Søborg, Denmark

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Marie L Johansen Department of Medicine, Herlev Hospital, University of Copenhagen, Herlev, Denmark

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Asger Lund Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark

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Malte P Suppli Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark

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Elizaveta Chabanova Department of Radiology, Herlev Hospital, University of Copenhagen, Herlev, Denmark

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Gerrit van Hall Clinical Metabolomics Core Facility, Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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Jens J Holst Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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Nicolai J Wewer Albrechtsen Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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Caroline Kistorp Department of Endocrinology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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Filip K Knop Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Steno Diabetes Center Copenhagen, Herlev, Denmark

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.0 Leucine 130 (120–145) 134 (115–160) 0.41 −15–6.0 Lysine 187 (171–213) 188 (173–209) 0.82 −10–13 Methionine 22 (19–25) 22 (19–25) 0.61 −1.0–2.0 Phenylalanine 57 (53–64) 57 (52–62) 0.37 −2.0–5.0 Proline

Article Type:
Research Article
Collections:
Metabolic Syndrome and Diabetes
DOI:
https://doi.org/10.1530/EC-23-0161
Volume/Issue:
Volume 13: Issue 1
Open access
Jia Li Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Department of Electronic Science, State Key Laboratory of Physical Chemistry of Solid Surfaces, Xiamen University, Xiamen, China

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Yan Zhao Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China

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Caoxin Huang Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China

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Zheng Chen Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China

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Xiulin Shi Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China

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Long Li Institute of Drug Discovery Technology, Ningbo University, Ningbo, China

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Zhong Chen Department of Electronic Science, State Key Laboratory of Physical Chemistry of Solid Surfaces, Xiamen University, Xiamen, China

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Xuejun Li Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China

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-month vigorous exercise intervention was considered. Materials Ammonium acetate, formic acid and acetonitrile (all HPLC grade) were purchased from Fisher Scientific Co., and 2-chloro- l -phenylalanine was purchased from Aladdin Company (Shanghai

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0023
Volume/Issue:
Volume 8: Issue 4
Open access
Julia Otten Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden

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Andreas Stomby Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden
Region Jönköping County, Jönköping, Sweden

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Maria Waling Department of Food, Nutrition and Culinary Science, Umeå University, Umeå, Sweden

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Elin Chorell Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden

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Mats Ryberg Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden

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Michael Svensson Department of Community Medicine and Rehabilitation, Section for Sports Medicine, Umeå University, Umeå Sweden

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Jens Juul Holst NNF Center for Basic Metabolic Research and Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark

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Tommy Olsson Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden

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, leucine, phenylalanine, and glutamate were significantly and positively associated with fasting glucagon but that was not the case for fasting alanine and glutamine ( Fig. 1 ). Fasting arginine and serine were negatively associated with fasting glucagon

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0171
Volume/Issue:
Volume 10: Issue 9
Open access
Magnus F G Grøndahl Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark

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Jonatan I Bagger Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
Clinical Research, Steno Diabetes Center Copenhagen, Herlev, Denmark

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Malte P Suppli Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark

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Gerrit Van Hall Department of Clinical Biochemistry, Clinical Metabolomics Core Facility, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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Nicolai J W Albrechtsen Department of Clinical Biochemistry, University Hospital Copenhagen, Bispebjerg, Copenhagen, Denmark

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Jens J Holst Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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Tina Vilsbøll Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
Clinical Research, Steno Diabetes Center Copenhagen, Herlev, Denmark

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Mikkel B Christensen Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Pharmacology, Copenhagen University Hospital – Bispebjerg and Frederiksberg, Copenhagen, Denmark
Copenhagen Center for Translational Research, Copenhagen University Hospital – Bispebjerg and Frederiksberg, University of Copenhagen, Copenhagen, Denmark

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Asger B Lund Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark

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Filip K Knop Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
Clinical Research, Steno Diabetes Center Copenhagen, Herlev, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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larger decrease in aspartic acid levels in the control subgroup without obesity compared to the control subgroup with obesity and smaller decreases in the type 2 diabetes subgroup with obesity for valine, phenylalanine, and isoleucine; however, following

Article Type:
Research Article
Collections:
Metabolic Syndrome and Diabetes
DOI:
https://doi.org/10.1530/EC-23-0516
Volume/Issue:
Volume 13: Issue 3
Open access
Shanlee M Davis Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA

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Rhianna Urban Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA

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Angelo D’Alessandro Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA

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Julie A Reisz Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA

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Christine L Chan Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

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Megan Kelsey Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

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Susan Howell Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA

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Nicole Tartaglia Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA

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Philip Zeitler Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA

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Peter Baker II Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

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.3e –2 ), lysine ( P  = 4.1e –2 ), and phenylalanine ( P  = 4.5e –2 ) were all higher in the testosterone-treated group. Figure 3 Volcano plot of metabolites that are higher (right side of X- axis) or lower (left) in testosterone-treated boys

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0523
Volume/Issue:
Volume 12: Issue 5
Open access
Lanping Jiang Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Department of Nephrology & Key Laboratory of Nephrology, National Health Commission and Guangdong Province, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China

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Xiaoyan Peng Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Renal Division, Children’s Hospital Affiliated to Capital Institute of Pediatrics, Beijing, China

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Bingbin Zhao Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Lei Zhang Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Lubin Xu Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xuemei Li Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Min Nie Department of Endocrinology & Key Laboratory of Endocrinology, National Health and Family Planning Commission, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Limeng Chen Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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. The predicted secondary structure of the 60th residue was changed from loop of WT threonine ( Fig. 3A ) to an α-helix of methionine mutation ( Fig. 3A′ ); similarly, in the 215th residue, leucine mutated to phenylalanine (Supplementary Fig. 1A and A

Article Type:
Research Article
Collections:
Cardiovascular
DOI:
https://doi.org/10.1530/EC-21-0262
Volume/Issue:
Volume 11: Issue 1
Open access
Ju-shuang Li Division of Epidemiology and Health Statistics, Department of Preventive Medicine, School of Public Health & Management, Wenzhou Medical Unviersity, Wenzhou, Zhejiang, China
Center on Evidence-Based Medicine & Clinical Epidemiological Research, School of Public Health & Management, Wenzhou Medical University, Wenzhou, Zhejiang, China

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Tao Wang Division of Epidemiology and Health Statistics, Department of Preventive Medicine, School of Public Health & Management, Wenzhou Medical Unviersity, Wenzhou, Zhejiang, China
Center on Evidence-Based Medicine & Clinical Epidemiological Research, School of Public Health & Management, Wenzhou Medical University, Wenzhou, Zhejiang, China

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Jing-jing Zuo Center on Clinical Research, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China

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Cheng-nan Guo Division of Epidemiology and Health Statistics, Department of Preventive Medicine, School of Public Health & Management, Wenzhou Medical Unviersity, Wenzhou, Zhejiang, China
Center on Evidence-Based Medicine & Clinical Epidemiological Research, School of Public Health & Management, Wenzhou Medical University, Wenzhou, Zhejiang, China

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Fang Peng Division of Epidemiology and Health Statistics, Department of Preventive Medicine, School of Public Health & Management, Wenzhou Medical Unviersity, Wenzhou, Zhejiang, China
Center on Evidence-Based Medicine & Clinical Epidemiological Research, School of Public Health & Management, Wenzhou Medical University, Wenzhou, Zhejiang, China

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Shu-zhen Zhao Division of Epidemiology and Health Statistics, Department of Preventive Medicine, School of Public Health & Management, Wenzhou Medical Unviersity, Wenzhou, Zhejiang, China
Center on Evidence-Based Medicine & Clinical Epidemiological Research, School of Public Health & Management, Wenzhou Medical University, Wenzhou, Zhejiang, China

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Hui-hui Li Division of Epidemiology and Health Statistics, Department of Preventive Medicine, School of Public Health & Management, Wenzhou Medical Unviersity, Wenzhou, Zhejiang, China
Center on Evidence-Based Medicine & Clinical Epidemiological Research, School of Public Health & Management, Wenzhou Medical University, Wenzhou, Zhejiang, China

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Xiang-qing Hou Division of Epidemiology and Health Statistics, Department of Preventive Medicine, School of Public Health & Management, Wenzhou Medical Unviersity, Wenzhou, Zhejiang, China
Center on Evidence-Based Medicine & Clinical Epidemiological Research, School of Public Health & Management, Wenzhou Medical University, Wenzhou, Zhejiang, China

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Yuan Lan Center on Clinical Research, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China
Department of Ophthalmology, Pingxiang People’s Hospital of Southern Medical University, Pingxiang, Jiangxi, China

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Ya-ping Wei Division of Epidemiology and Health Statistics, Department of Preventive Medicine, School of Public Health & Management, Wenzhou Medical Unviersity, Wenzhou, Zhejiang, China
Beijing Advanced Innovation Center for Food Nutrition and Human Health, College of Food Science and Nutritional Engineering, China Agricultural University, Beijing, China

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Chao Zheng The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China

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Guang-yun Mao Division of Epidemiology and Health Statistics, Department of Preventive Medicine, School of Public Health & Management, Wenzhou Medical Unviersity, Wenzhou, Zhejiang, China
Center on Evidence-Based Medicine & Clinical Epidemiological Research, School of Public Health & Management, Wenzhou Medical University, Wenzhou, Zhejiang, China
Center on Clinical Research, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China

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5 94 – 111 . ( https://doi.org/10.2174/157340109788185562 ) 20 Wei Y Jia C Lan Y Hou X Zuo J Li J Wang T Mao G The association of tryptophan and phenylalanine are associated with arsenic-induced skin lesions in a Chinese

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Research Article
DOI:
https://doi.org/10.1530/EC-20-0370
Volume/Issue:
Volume 9: Issue 12
Open access
Francesca Marini Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
F.I.R.M.O. Italian Foundation for the Research on Bone Diseases, Florence, Italy

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Francesca Giusti Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

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Teresa Iantomasi Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

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Federica Cioppi University Hospital of Florence, Azienda Ospedaliero Universitaria Careggi (AOUC), Florence, Italy

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Maria Luisa Brandi F.I.R.M.O. Italian Foundation for the Research on Bone Diseases, Florence, Italy

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in the exon 8 of the MEN1 gene. The cysteine to phenylalanine substitution at position 354 affects a central domain of menin protein presumably involved in the interaction with JunD ( 15 ), a component of the AP-1 transcription factor. WT menin

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Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-21-0456
Volume/Issue:
Volume 11: Issue 5
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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genetic predisposition and disease characteristics, which aim to improve patient outcomes. Examples include the development of new medications based on targeted treatment for cystic fibrosis and spinal muscular atrophy, a phenylalanine-free diet to manage

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