Avinaash Maharaj
Avinaash Maharaj
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Ruth Kwong
Ruth Kwong
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Jack Williams
Jack Williams
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Christopher Smith
Christopher Smith
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Helen Storr
Helen Storr
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Ruth Krone
Ruth Krone
Birmingham Children’s Hospital, Birmingham, UK
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Debora Braslavsky
Debora Braslavsky
Centro de Investigaciones Endocrinológicas ‘Dr. Cesar Bergadá’ (CEDIE) – CONICET – FEI – División de Endocrinología, Hospital de Niños ‘Ricardo Gutiérrez’, Buenos Aires, Argentina
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Maria Clemente
Maria Clemente
Paediatric Endocrinology, Growth and Development Research Unit, Vall d’Hebron Research Institute (VHIR), Hospital Vall d’Hebron, CIBERER, Instituto de Salud Carlos III, Barcelona, Spain
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Nanik Ram
Nanik Ram
Department of Endocrinology, The Aga Khan University Hospital, Karachi, Pakistan
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Indraneel Banerjee
Indraneel Banerjee
Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK
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Semra Çetinkaya
Semra Çetinkaya
Health Sciences University, Dr. Sami Ulus Obstetrics and Gynaecology, Children’s Health and Disease Education and Research Hospital, Ankara, Turkey
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Federica Buonocore
Federica Buonocore
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
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Tülay Güran
Tülay Güran
Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey
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John C Achermann
John C Achermann
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
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Louise Metherell
Louise Metherell
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Rathi Prasad
Rathi Prasad
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Introduction Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS; nephrotic syndrome, type 14; NPHS14; MIM 617575), a multi-systemic disorder of sphingolipid metabolism first described in 2017, is caused by variants in SGPL1 , in
Jia Li
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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Department of Electronic Science, State Key Laboratory of Physical Chemistry of Solid Surfaces, Xiamen University, Xiamen, China
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Yan Zhao
Yan Zhao
Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
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Caoxin Huang
Caoxin Huang
Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
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Zheng Chen
Zheng Chen
Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
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Xiulin Shi
Xiulin Shi
Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
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Long Li
Long Li
Institute of Drug Discovery Technology, Ningbo University, Ningbo, China
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Zhong Chen
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
Xuejun Li
Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
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the histological NAFLD severity ( 13 ). Moreover, plasma lipids, such as diacylglycerol, triacylglycerol, cholesteryl ester, sphingolipid and glycerophospholipid, can distinguish NASH (non-alcoholic steatohepatitis) from steatosis ( 14 ). Our
Feifei Shao
Feifei Shao
Department of Endocrinology, Gansu Provincial Hospital, Lanzhou, Gansu, China
Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China
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Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China
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Xinxin Hu
Xinxin Hu
Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China
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The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China
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Jiayu Li
Jiayu Li
Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China
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The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China
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Bona Bai
Bona Bai
Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China
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The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China
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Limin Tian
Limin Tian
Department of Endocrinology, Gansu Provincial Hospital, Lanzhou, Gansu, China
Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China
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Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China
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observed to lead to increased levels of long-chain acyl-carnitines, and several lipids have been selected as biomarkers of aging, especially sphingolipids, ether-linked phospholipids, and ester-linked phospholipids ( 12 , 13 , 14 ). It seems complex and
Mohamed Asrih
Mohamed Asrih
Service of Endocrinology, Diabetes, Nutrition and Patient Therapeutic Education, Geneva University Hospitals, Geneva, Switzerland
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Flore Sinturel
Flore Sinturel
Thoracic and Endocrine Surgery Division, Department of Surgery, Geneva University Hospitals (HUG), Geneva, Switzerland
Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland
Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland
Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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Richard Dubos
Richard Dubos
Department and Division of Primary Care Medicine, Geneva University Hospitals (HUG), Geneva, Switzerland
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Idris Guessous
Idris Guessous
Department and Division of Primary Care Medicine, Geneva University Hospitals (HUG), Geneva, Switzerland
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Zoltan Pataky
Zoltan Pataky
Service of Endocrinology, Diabetes, Nutrition and Patient Therapeutic Education, Geneva University Hospitals, Geneva, Switzerland
Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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Charna Dibner
Charna Dibner
Thoracic and Endocrine Surgery Division, Department of Surgery, Geneva University Hospitals (HUG), Geneva, Switzerland
Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland
Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland
Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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François R Jornayvaz
François R Jornayvaz
Service of Endocrinology, Diabetes, Nutrition and Patient Therapeutic Education, Geneva University Hospitals, Geneva, Switzerland
Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland
Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland
Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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Karim Gariani
Karim Gariani
Service of Endocrinology, Diabetes, Nutrition and Patient Therapeutic Education, Geneva University Hospitals, Geneva, Switzerland
Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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Vandereycken B Saini C Gosselin P Brulhart-Meynet MC Robert M Chanon S , Ether lipids, sphingolipids and toxic 1-Deoxyceramides as hallmarks for lean and obese Type 2 diabetic patients . Acta Physiologica 2021 232 e13610. ( https://doi.org/10
Tao Gao
Tao Gao
Department of General Practice, The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China
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Rui Liu
Rui Liu
Department of Oncology. The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China
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Chunli Li
Chunli Li
Institute of Life Sciences, Chongqing Medical University, Chongqing, China
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Xinglin Chu
Xinglin Chu
Department of General Practice, The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China
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Qiao Guo
Qiao Guo
Department of General Practice, The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China
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Dazhi Ke
Dazhi Ke
Department of General Practice, The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China
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involved in complement and coagulation cascade reaction, platelet activation, histidine metabolism, vitamin metabolism and absorption, fat digestion and absorption, sphingolipid metabolism, cholesterol metabolism, and other pathways ( Fig. 2 ). Basic
Yu Lin
Yu Lin
State Key Laboratory of Reproductive Medicine, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, People’s Republic of China
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Yingying Zhang
Yingying Zhang
State Key Laboratory of Reproductive Medicine, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, People’s Republic of China
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Lei Xu
Lei Xu
Maternal and Child Health Care Hospital of Dongchangfu District, Liaocheng, People’s Republic of China
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Wei Long
Wei Long
State Key Laboratory of Reproductive Medicine, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, People’s Republic of China
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Chunjian Shan
Chunjian Shan
State Key Laboratory of Reproductive Medicine, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, People’s Republic of China
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Hongjuan Ding
Hongjuan Ding
State Key Laboratory of Reproductive Medicine, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, People’s Republic of China
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Lianghui You
Lianghui You
State Key Laboratory of Reproductive Medicine, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, People’s Republic of China
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Chun Zhao
Chun Zhao
State Key Laboratory of Reproductive Medicine, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, People’s Republic of China
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Zhonghua Shi
Zhonghua Shi
State Key Laboratory of Reproductive Medicine, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, People’s Republic of China
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genes were found to be involved in cytokine–cytokine receptor interaction, sphingolipid metabolism, NOD-like receptor signaling pathway, etc. Interestingly, 583 down-regulated genes were found to be involved in metabolic pathways, insulin signaling
Stephen A Martin
Stephen A Martin
Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
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Kenneth A Philbrick
Kenneth A Philbrick
Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
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Carmen P Wong
Carmen P Wong
Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
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Dawn A Olson
Dawn A Olson
Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
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Adam J Branscum
Adam J Branscum
Biostatistics Program, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
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Donald B Jump
Donald B Jump
Molecular Nutrition and Diabetes Research Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
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Charles K Marik
Charles K Marik
Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
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Jonathan M DenHerder
Jonathan M DenHerder
Carlson College of Veterinary Medicine, Oregon State University, Corvallis, Oregon, USA
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Jennifer L Sargent
Jennifer L Sargent
Carlson College of Veterinary Medicine, Oregon State University, Corvallis, Oregon, USA
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Russell T Turner
Russell T Turner
Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
Center for Healthy Aging Research, Oregon State University, Corvallis, Oregon, USA
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Center for Healthy Aging Research, Oregon State University, Corvallis, Oregon, USA
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Urszula T Iwaniec
Urszula T Iwaniec
Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
Center for Healthy Aging Research, Oregon State University, Corvallis, Oregon, USA
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Center for Healthy Aging Research, Oregon State University, Corvallis, Oregon, USA
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types or regions (e.g., proximal, midshaft, distal); additionally, our methodology does not allow us to distinguish between lipid classes (e.g., non-esterified fatty acids, glycerolipids, sphingolipids, ether lipids, or waxes). The 16-week-old male B6
Karim Gariani
Karim Gariani
Service of Endocrinology, Diabetes, Nutrition and Therapeutic Patient Education, Geneva University Hospitals and Geneva University, Geneva, Switzerland
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François R Jornayvaz
François R Jornayvaz
Service of Endocrinology, Diabetes, Nutrition and Therapeutic Patient Education, Geneva University Hospitals and Geneva University, Geneva, Switzerland
Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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models highlights changes in sphingolipid metabolism . Scientific Reports 2019 9 16810 . ( https://doi.org/10.1038/s41598-019-53346-4 ) 27 Parthasarathy G Revelo X Malhi H Pathogenesis of nonalcoholic steatohepatitis: an overview
Alice Costantini
Alice Costantini
Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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Mari H Muurinen
Mari H Muurinen
Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland
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Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland
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Outi Mäkitie
Outi Mäkitie
Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
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Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
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sphingomyelin synthase 2 cause SMD Sphingomyelin is a sphingolipid of the plasma membrane and the Golgi membranes. Monoallelic pathogenic variants in the gene encoding sphingomyelin synthase 2 ( SGMS2 ), an enzyme that catalyzes the synthesis of sphingomyelin
