JOURNAL OF INHERITED METABOLIC DISEASE

作者Caiqi Du; Hao Fu; Tingting Yu; Sisi Cao; Haotian Zhang; Boda Wei; Cai Zhang; Juan Ye; Wenjun Long; Xiaoping Luo; Yan Liang

作者单位1. Department of Pediatrics Tongji Children's Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China; 2. Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases Wuhan China; 3. Hubei Provincial Clinical Research Center for Child Growth, Development, and Metabolic Diseases Wuhan China; 4. Department of Pediatrics Jiujiang Maternal and Child Health Hospital Jiujiang China

作者Soma Koga; Hajime Takei; Ryutaro Tamura; Yugo Takaki; Hiroyuki Kusuhara; Hiroshi Nittono; Hisamitsu Hayashi

作者单位1. Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo Tokyo Japan; 2. Junshin Clinic Bile Acid Institute Tokyo Japan; 3. Department of Pediatric Gastroenterology and Hepatology, Japanese Red Cross Kumamoto Hospital Kumamoto Japan

作者Junfei Cao; Lennart Kruizinga; Iris B. Hovens; Els van der Goot; Robbert Havekes; Eddy A. van der Zee

作者单位1. Neurobiology Expertise Group, Groningen Institute for Evolutionary Life Sciences (GELIFES) University of Groningen Groningen the Netherlands

作者Ilona Tkachyova; Dahai Wang; Alex Lee; Philip Rößler; Joshua Atienza; Jens Feugmann; Niko Guischard; Anson Hui; Chloe Shi; Andreas Schulze

作者单位1. Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada; 2. Department of Biochemistry University of Toronto Toronto Ontario Canada; 3. Department of Pediatrics University of Toronto Toronto Ontario Canada

作者Rebecca K. Halligan; Michael T. Sanders; Arthavan Selvanathan; Nirubhan Veeraghavan; Isaac Bernhardt; Joanna Gribben; Radha Ramachandran; Fiona J. White; Bernd C. Schwahn; Karolina M. Stepien; Preeya Rehsi; Elaine Murphy; Sarah L. Hulley; Helen R. Mundy

作者单位1. Department of Paediatric Inherited Metabolic Diseases Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust London UK; 2. School for Government, King's College London London UK; 3. Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust Health Innovation Manchester Manchester UK; 4. Department of Inherited Metabolic Diseases St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust London UK; 5. Division of Evolution & Genomic Sciences School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester Manchester UK; 6. Department of Adult Inherited Metabolic Medicine Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust Salford UK; 7. Department of Paediatric Inherited Metabolic Disease Great Ormond Street Hospital NHS Foundation Trust London UK; 8. Charles Dent Metabolic Unit University College London Hospital NHS Foundation Trust London UK; 9. Department of Paediatric Metabolic Medicine Sheffield Children's Hospital Sheffield UK

作者Léa Zloty; Mouna Aoun; Carmen Capito; Anaïs Brassier; Guillaume Morcrette; Ugo Cucinotta; Laurène Dehoux; Claire Mayer; Jean‐Paul Duong Van Huynh; Apolline Imbard; Jean‐François Benoist; Christophe Chardot; Manuel Schiff; Pascale de Lonlay; Monique Fabre; Florence Lacaille

作者单位1. Pediatric Hepatology, Hôpital Universitaire Necker‐Enfants Maladies Filière Filfoie, ERN Rare‐Liver and TransplantChild Paris France; 2. Pediatric Gastroenterology‐Nutrition, Hôpital Universitaire Necker‐Enfants Maladies Paris France; 3. Pathology, Hôpital Universitaire Necker‐Enfants Malades Paris France; 4. Pediatric Surgery, Hôpital Universitaire Necker‐Enfants Malades Paris France; 5. Pediatric Metabolic Diseases, Hôpital Universitaire Necker‐Enfants Malades, Institut Imagine, INSERM UMR 1163; INSERM‐U1151, Institut Necker Enfants‐Malades (INEM) Université Paris Cité, Filière G2m, MetabERN Paris France; 6. Pediatric Nephrology, Hôpital Universitaire Necker‐Enfants Maladies Paris France; 7. Biochemistry, Hôpital Universitaire Necker‐Enfants Malades, Université Paris Saclay Paris France

作者Nathan Breuillard; Nadia Zürcher; Erica Faccin; Kim L. Stocker; Martin Poms; Johannes Häberle

作者单位1. Division of Metabolism and Children's Research Centre (CRC) University Children's Hospital Zurich Zurich Switzerland; 2. Division Clinical Chemistry and Biochemistry University Children's Hospital Zurich Zurich Switzerland

作者Najmesadat Seyedkatouli; Liana N. Semcesen; Lucia Gallucci; Tim Sikora; Jean‐François Conrotte; Mei R. M. Du; Marat Kasakin; Gezime Seferi; Licia Corona; Martin Jakubec; Brunda Nijagal; Sajel Lala; Rebecca D. Ganetzky; Ana Maria Rodriguez Barreto; Marina Szlago; Melanie Wong; Margit Shah; James Nurse; Nicola Foulds; Shankar Sadagopan; Ha Nguyen Thu; Dung Vu Chi; Khanh Nguyen Ngoc; Michelle G. de Silva; Mirana Ramialison; Fernando Rossello; MitoMDT Diagnostic Network for Genomics and Omics; David R. Thorburn; Matthew Lynch; Pauline McGrath; David A. Stroud; John Christodoulou; Carole L. Linster; Nicole J. Van Bergen

作者单位1. Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg Esch‐sur‐Alzette Luxembourg; 2. Department of Biochemistry and Pharmacology Bio21 Molecular Science and Biotechnology Institute, the University of Melbourne Parkville Victoria Australia; 3. Murdoch Children's Research Institute, Royal Children's Hospital Parkville Victoria Australia; 4. Metabolomics Australia, Bio21 Institute, the University of Melbourne Melbourne Victoria Australia; 5. Division of Clinical Genetics Nickelaus Children's Health System Coral Gables Florida USA; 6. Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Pennsylvania USA; 7. Hospital de Niños Dr. Ricardo Gutiérrez City of Buenos Aires Argentina; 8. The Children's Hospital at Westmead Westmead Australia; 9. Faculty of Medicine and Health, University of Sydney Sydney New South Wales Australia; 10. University Hospital Southampton NHS Foundation Trust Southampton UK; 11. Faculty of Medicine, University of Southampton Southampton UK; 12. Center for Endocrinology, Metabolism, Genetics/Genomics and Molecular Therapy, Vietnam National Children's Hospital Vietnam; 13. Victorian Clinical Genetics Services, Murdoch Children's Research Institute Melbourne Victoria Australia; 14. Department of Paediatrics Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne Melbourne Victoria Australia; 15. Neurosciences Unit, Queensland Children's Hospital Brisbane Australia

作者Pranavi Hegde; Aakanksha Anand; Rita Rani; Namanpreet Kaur; Ami Shah; Shilpa Kulkarni; Janani Supraja Mallavaram; Raghavender Medishetti; Amoolya Kandettu; Huzail Shaikh; Shahyan Siddiqui; Purvi Majethia; Vivekananda Bhat; Periyasamy Radhakrishnan; Aarti Sevilimedu; Sanjiban Chakrabarty; Anju Shukla

作者单位1. Department of Public Health Genomics Manipal School of Life Sciences, Manipal Academy of Higher Education Manipal India; 2. Department of Medical Genetics Kasturba Medical College, Manipal Academy of Higher Education Manipal India; 3. Center for Innovation in Molecular and Pharmaceutical Sciences, Dr. Reddy's Institute of Life Sciences, University of Hyderabad Campus, Gachibowli Hyderabad India; 4. Bai Jerbai Wadia Hospital for Children Mumbai India; 5. Department of Radiology NMC Royal Hospital, Dubai Investment Park Dubai UAE; 6. Center for Rare Disease Models, Dr. Reddy's Institute of Life Sciences, University of Hyderabad Campus Hyderabad India

作者Martin Donnelley; Ronan Smith; Patricia Cmielewski; Nicole Reyne; Piraveen Pirakalathanan; Nina Eikelis; Kris Nilsen; Jennie Louise; Kate Barratt; Jessica Logan; Ben Ung; David Parsons; Doug Brooks; Sandra Orgeig; Emma Parkinson‐Lawrence

作者单位1. Robinson Research Institute Adelaide University Adelaide South Australia; 2. School of Medicine, College of Health Adelaide University Adelaide South Australia; 3. Respiratory and Sleep Medicine, Women's and Children's Hospital Adelaide South Australia; 4. 4DMedical Melbourne Australia; 5. Biostatistics Unit South Australian Health and Medical Research Institute Adelaide South Australia; 6. Mechanisms in Cell Biology and Disease Research Concentration, School of Pharmacy and Biomedical Sciences, College of Health Adelaide University Adelaide South Australia; 7. Quality Use of Medicines and Pharmacy Research Centre, School of Pharmacy and Biomedical Sciences College of Health Adelaide University Adelaide South Australia