We have located links that may give you full text access.
JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode.
Journal of Chromatography. B, Biomedical Sciences and Applications 2000 September 2
Children with fructose-1,6-diphosphatase (FDPase) deficiency often experience life threatening episodes such as ketotic hypoglycemia. We report here a rapid, simplified and sensitive method to analyze glycerol-3-phosphate (G3P) and glycerol in urine, that can be used to detect FDPase deficiency. We used the urease/direct preparation and gas chromatography-mass spectrometry in the selected-ion monitoring mode, enabling detection of G3P and glycerol level in normal controls. Using this approach, FDPase deficiency can be more easily diagnosed and differentiated from glycerol kinase deficiency or glycerol infusion patients. To date, diagnosis has been essentially based on the assay of enzymes in the liver. The proposed non-invasive method provides a clinically significant diagnostic tool that may help prevent episodic attacks.
Full text links
Trending Papers
A Personalized Approach to the Management of Congestion in Acute Heart Failure.Heart International 2023
Potential Mechanisms of the Protective Effects of the Cardiometabolic Drugs Type-2 Sodium-Glucose Transporter Inhibitors and Glucagon-like Peptide-1 Receptor Agonists in Heart Failure.International Journal of Molecular Sciences 2024 Februrary 21
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app