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Journal of Chromatography B, ISSN 1570-0232, 12/2012, Volume 911, p. 186
a* A straightforward LC-MS/MS method for the determination of CBS enzyme activity. a* The method can be applied to different cell types. a* The method can be... 
Measurement | Phosphates | Enzymes | Analysis | Liquid chromatography | Homocysteine | Mass spectrometry | Methods
Journal Article
Lancet Neurology, ISSN 1474-4422, 2011, Volume 10, Issue 9, pp. 806 - 818
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 797 - U231
Journal Article
Journal of lipid research, ISSN 0022-2275, 2014, Volume 55, Issue 3, pp. 466 - 477
Journal Article
Neurology, ISSN 0028-3878, 01/2019, Volume 92, Issue 2, pp. e83 - e95
OBJECTIVETo evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX). METHODSIn this retrospective... 
DIARRHEA | TENDON XANTHOMAS | CTX | FOLLOW-UP | CHENODEOXYCHOLIC ACID | BILE-ACIDS | CLINICAL NEUROLOGY
Journal Article
Nature Genetics, ISSN 1061-4036, 2016, Volume 48, Issue 7, pp. 777 - 784
Journal Article
American Society of Nephrology. Journal, ISSN 1046-6673, 03/2014, Volume 25, Issue 3, pp. 574 - 586
textabstractMutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (HPABH4D). Until now, HPABH4D has been regarded... 
Journal Article
Brain, ISSN 0006-8950, 2007, Volume 130, Issue 3, pp. 862 - 874
Journal Article