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Author/Creator Sinasac, David S.

1. 3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method. Issue 3 (7th March 2022)

Authors:
Sasarman, Florin; Ferdinandusse, Sacha; Sinasac, David S.; Fung, Ernest; Sparkes, Rebecca; Reeves, Melanie; Rombough, Catherine; Sass, Jörn Oliver; Voit, Renate; Ruiter, Jos P. N.; Koster, Janet; Waterham, Hans R.; Pasquini, Elisabetta; Donati, Maria A.; Marquardt, Thorsten; Wanders, Ronald J. A....
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 3(2022)
Page Start:
445
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation. Issue 1 (22nd July 2019)

Authors:
Chang, Caitlin A.; Wei, Xing‐Chang; Martin, Steven R.; Sinasac, David S.; Al‐Hertani, Walla
Journal:
JIMD reports
Issue:
Volume 49:Issue 1(2019)
Page Start:
21
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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