PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide
JPGN Reports, EarlyView.Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
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Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism [PDF]
, 2021 C Montanari +12 more
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Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism. [PDF]
Cureus, 2020 Khan A, Zahid B, Khan S, Ahmad SA.
europepmc +1 more source
Understanding Inborn Errors of Metabolism through Metabolomics [PDF]
, 2022 Karen Driesen, Peter Witters
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, 1973 This is the first in a series of newsletters designed to inform the Virginia medical community of recent advances in the area of genetics and metabolism and to provide information regarding a variety of services that are available at the Medical College ...
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Electrokinetic Manipulations Combined With Direct and Ambient Ionization Mass Spectrometry
Mass Spectrometry Reviews, EarlyView.ABSTRACT Mass spectrometry (MS) is a powerful analytical technique that typically involves sample preparation and online analytical separation before MS detection. Traditional methods often face bottlenecks in sample preparation and analytical separation, despite the rapid detection capabilities of MS.
Nicholas E. Manicke +2 more
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Diet and lifestyle of adult with inborn errors of metabolism (IEM) during Covid 19 pandemic [PDF]
, 2020 Nicola Vitturi +5 more
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The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism [PDF]
, 2022 Tim Van Damme +3 more
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AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review [PDF]
, 2018 Summary: Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
core
Antithrombin: Deficiency, Diversity, and the Future of Diagnostics
Mass Spectrometry Reviews, EarlyView.ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt +2 more
wiley +1 more source