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9 p, 215.1 KB Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases : Results From the First Multi-Center European Survey / Stepien, Karolina M. (Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust) ; Kieć-Wilk, Beata (Department of Metabolic Diseases, Medical College, Jagiellonian University) ; Lampe, Christina (Department of Child Neurology, Center for Rare Diseases Giessen (ZSEGI), Justus-Liebig University) ; Tangeraas, Trine (Oslo University Hospital (Oslo, Noruega)) ; Cefalo, Graziella (Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo) ; Belmatoug, Nadia (Referral Center for Lysosomal Diseases, AP-HP Nord, Beaujon Hospital, Paris University) ; Francisco, Rita (Portuguese Association for Congenital Disorders of Glycosylation and other Rare Metabolic Diseases) ; Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ; Wagner, Leona (German-Speaking Self-Help Group for Alkaptonuria (DSAKU) e.V) ; Lauridsen, Anne-Grethe (Gaucher Association Denmark) ; Sestini, Sylvia (Italian Association of Patients With Alkaptonuria (aimAKU)) ; Weinhold, Nathalie (Metabolic Unit, Interdisciplinary Centre for Metabolism: Endocrinology, Diabetes and Metabolism (UP) and Children's Hospital, Charité University Hospital Berlin) ; Hahn, Andreas (Department of Child Neurology, Justus-Liebig University) ; Montanari, Chiara (Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo) ; Rovelli, Valentina (Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo) ; Bellettato, Cinzia M. (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ; Paneghetti, Laura (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ; van Lingen, Corine (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ; Scarpa, Maurizio (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ; Universitat Autònoma de Barcelona
Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have improved the life expectancy of IMD patients over the last decades, with the majority of patients now surviving beyond the age of 20. [...]
2021 - 10.3389/fmed.2021.652358
Frontiers in Medicine, Vol. 8 (february 2021)  

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