Primary carnitine deficiency: diagnosis after heart transplantation : better late than never!

Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death.

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Bibliographic Details
Main Authors:	Grünert, Sarah (Author) , Tucci, Sara (Author) , Schumann, Anke (Author) , Schwendt, Meike (Author) , Gramer, Gwendolyn (Author) , Hoffmann, Georg F. (Author) , Erbel, Michelle (Author) , Stiller, Brigitte (Author) , Spiekerkötter, Ute (Author)
Format:	Article (Journal)
Language:	English
Published:	10 April 2020
In:	Orphanet journal of rare diseases Year: 2020, Volume: 15, Pages: 1-6
ISSN:	1750-1172
DOI:	10.1186/s13023-020-01371-2
Online Access:	Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-020-01371-2
Author Notes:	Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller and Ute Spiekerkoetter

Description
Summary:	Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death.
Item Description:	Gesehen am 12.05.2020
Physical Description:	Online Resource
ISSN:	1750-1172
DOI:	10.1186/s13023-020-01371-2