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Inherited Cardiovascular Metabolic Disorders
- Source :
- Cardiovascular Genetics and Genomics ISBN: 9783319661124
- Publication Year :
- 2018
- Publisher :
- Springer International Publishing, 2018.
-
Abstract
- Cardiovascular involvement is a recognised feature of more than 50 different inherited disorders of metebolism. Most frequently cardiovascular disease associated with inherited disorders of metabolism presents as part of multisystem disease, but on occasion it may be the most significant (e.g., Infantile Pompe disease, Danon disease) or only (e.g., Fabry disease, Glycogen storage disease XV) presenting feature, and a high index of suspicion is needed to reach the correct diagnosis. Diagnosis is important because many of these disorders (partly) respond to treatments such as dietary modification, co-factor administration, enzyme replacement therapy, or haematopoietic stem cell transplantation.
Details
- ISBN :
- 978-3-319-66112-4
- ISBNs :
- 9783319661124
- Database :
- OpenAIRE
- Journal :
- Cardiovascular Genetics and Genomics ISBN: 9783319661124
- Accession number :
- edsair.doi...........31a5623377a47f16875c4c2530af6309