Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians

Autor: Sandra Sirrs, Elisa Fabbro, Annalisa Sechi, for the SSIEM Adult Metabolic Medicine Training Competencies Working Group

Publikováno v: JIMD Reports, Vol 63, Iss 5, Pp 468-474 (2022)

Abstract The rapid expansion of the number of adult patients with inherited metabolic diseases (IMDs) has created demand for physicians with expertise in the field of adult metabolic medicine (AMM). Unfortunately, existing accredited training program

Externí odkaz: https://doaj.org/article/9f9129fabf5a4e80ab304ada4f63f9a1

JIMD Reports - Case and Research Reports, 2012/2

Autor: SSIEM

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or bioch

Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia

Autor: ROSSI, ALESSANDRO, RUOPPOLO, MARGHERITA, FORMISANO, PIETRO, VILLANI, GUGLIELMO ROSARIO DOMENI, PARENTI, GIANCARLO, STRISCIUGLIO, PIETRO, MELIS, DANIELA, Albano, L., Gallo, G., Moccia, A.

Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). It has been recently shown that GSDIa patients are at higher risk for de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::f8b29bece292b38582f00a6612adc2f0
http://hdl.handle.net/11588/677727

European expert recommendations on clinical investigation and evaluation of high-risk medical devices for children.

Autor: Guerlich K; Child Health Foundation (Stiftung Kindergesundheit), c/o Dr. von Hauner Children's Hospital, Munich, Germany.; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany., Patro-Golab B; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany.; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN)., Barnacle A; Department of Interventional Radiology, Great Ormond St Hospital for Children, London, UK.; Cardiovascular and Interventional Radiological Society of Europe (CIRSE)., Baumann U; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Paediatric Gastroenterology and Hepatology Hannover Medical School, Hannover, Germany., Eicken A; German Heart Center Munich, Munich, Germany.; Association for European Paediatric and Congenital Cardiology (AEPC).; European Society of Cardiology (ESC)., Fraser AG; European Society of Cardiology (ESC).; Department of Cardiology, University Hospital of Wales, Cardiff, UK.; Biomedical Alliance in Europe., Gruszfeld D; Neonatal Department and NICU, Children's Memorial Health Institute, Warsaw, Poland.; European Society for Pediatric and Neonatal Intensive Care (ESPNIC)., Haas NA; Division of Pediatric Cardiology and Intensive Care, LMU University Hospital, LMU, Munich, Germany., Jonker AH; University of Twente, Enschede, The Netherlands., Kammermeier M; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany., Kenny D; Association for European Paediatric and Congenital Cardiology (AEPC).; Children's Health Ireland (CHI) at Crumlin and Mater Hospitals, Dublin, Ireland., Kolaček S; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Medical Faculty, University of Zagreb, Zagreb, Croatia., Lapatto R; Children's Hospital, Helsinki University Hospital, Helsinki, Finland.; European Academy of Paediatrics (EAP).; European Society of Endocrinology (ESE).; European Society for Paediatric Endocrinology (ESPE).; Society for Study of Inborn Errors of Metabolism (SSIEM).; European Reference Network on Rare Endocrine Conditions (EndoERN).; European Reference Network for Hereditary Metabolic Disorders (MetabERN)., Maconochie I; Imperial College NHS Healthcare Trust, London, UK.; European Society for Emergency Medicine (EUSEM)., Mader S; Parent Organisation European Foundation for the Care of Newborn Infants (EFCNI), Munich, Germany., McGauran G; Health Products Regulatory Authority, Dublin, Ireland.; Royal College of Physicians of Ireland., Melvin T; School of Medicine, Trinity College Dublin, Dublin, Ireland., Muensterer O; Department of Pediatric Surgery, Dr. von Hauner Children's Hospital, LMU Medical Center, Munich, Germany.; European Paediatric Surgeons' Association (EUPSA)., Piscoi P; Health Technology Unit B6, Directorate General for Health (DG SANTE), European Commission, Brussels, Belgium., Romano A; Pediatric Oncology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Saxena AK; European Paediatric Surgeons' Association (EUPSA).; Chelsea and Westminster NHS Fdn Trust, Imperial College London, London, UK., Schneider DT; Klinikum Dortmund, University Witten/Herdecke, Dortmund, Germany.; German Society of Pediatrics and Adolescent Medicine (Deutsche Gesellschaft für Kinder- und Jugendmedizin - DGKJ)., Turner MA; European Academy of Paediatrics (EAP).; Department of Women's and Children's Health, Instiute of Life Cycle and Medical Sciences, University of Liverpool, Liverpool, UK.; Royal College of Paediatrics and Child Health.; European Society for Developmental, Perinatal and Paediatric Pharmacology.; conect4children., Walle JV; Department of Pediatric Nephrology, University Hospital Ghent, Ghent, Belgium.; European Society of Pediatric Nephrology (ESPN), Chair of the European Pediatric Dialysis Working group (EPDWG).; International Pediatric Nephrology Association (IPNA).; European Rare Kidney Disease Reference Network (ERKNet)., Koletzko B; Child Health Foundation (Stiftung Kindergesundheit), c/o Dr. von Hauner Children's Hospital, Munich, Germany.; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany.; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; European Academy of Paediatrics (EAP).

Publikováno v: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2023 Nov; Vol. 112 (11), pp. 2440-2448. Date of Electronic Publication: 2023 Aug 15.

Elisabeth Holme.

Autor: Kollberg G; Department of Clinical Chemistry, Sahlgrenska University Hospital, Göteborg, Sweden., Clayton P; SSIEM, 130-132 Tooley Street, London, SE1 2TU, UK. Peter.clayton@ucl.ac.uk.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1159-60.