Results 101 to 110 of about 3,527 (133)
Some of the next articles are maybe not open access.
Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism
Klinische Wochenschrift, 1979A rapid and comprehensive urinary screening programme is presented by which most of the "heteroglycanoses" can be identified. The diagnoses obtained on a total of 44 patients with different storage disorders shows the usefulness of the method.
A C, Sewell, J, Gehler, J, Spranger
openaire +2 more sources
Genomic variants associated with inborn errors in carbohydrate metabolism in southwestern Colombia
Genetics and Clinical GenomicsIntroduction: Carbohydrate Inborn Errors of Metabolism (IEMs) result from disruption of the catabolic or anabolic pathways of different carbohydrates, fructose, galactose and glycogen being the most common and belong to a heterogeneous group of disorders that may be inherited or may occur as a result of spontaneous genetic variants.
Jaime David Viafara Belalcazar +2 more
openaire +1 more source
Inborn errors of carbohydrate metabolism
2014Rana F. Ammoury, Fayez K. Ghishan
openaire +1 more source
Inborn Errors of Carbohydrate Metabolism
2007Fayez K. Ghishan, Mona Zawaideh
openaire +1 more source
Epigenetic Alterations in Inborn Errors of Immunity
Journal of Clinical Medicine, 2022Andrea Riccio +2 more
exaly
Understanding Inborn Errors of Metabolism through Metabolomics
Metabolites, 2022Peter Witters +2 more
exaly
Ocular manifestations of inborn errors of carbohydrate and lipid metabolism.
Bibliotheca ophthalmologica : supplementa ad ophthalmologica, 1975openaire +3 more sources