| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833439 | Molecular Genetics and Metabolism | 2015 | 21 Pages |
Abstract
These results demonstrate, for the first time, cerebral involvement in CDS and give new insights in the complex phenotype. Since the clinical implications of this abnormal cerebral lipid accumulation are still unknown, further studies are warranted.
Keywords
HSLTAGNeutral lipid storage disease with ichthyosisNLSDIcongenital ichthyosiform erythrodermaABHD5LPAATmGlCGI-58CREMRSINSNaASLSCIEN-acetyl aspartateFatty aldehyde dehydrogenaseInherited metabolic diseaseAtglChotriacylglyceroldiacylglycerolDAGecho timeRepetition timecomparative gene identification-58magnetic resonance spectroscopyPoint-Resolved SpectroscopyFALDHlysophosphatidic acid acyltransferaseadipose triacylglycerol lipasehormone-sensitive lipaseMonoglyceride lipasePRESSMyo-inositolProton MRSCdScreatineCreatine kinaseCholine
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Authors
Marleen C.D.G. Huigen, Marinette van der Graaf, Eva Morava, A. Carin M. Dassel, Maurice A.M. van Steensel, Marieke M.B. Seyger, Ron A. Wevers, Michèl A. Willemsen,