Results 181 to 190 of about 2,214,124 (236)

The enzymatic diagnosis of some inborn errors of lipid metabolism

Pathology, 1975
Work is currently in progress in this laboratory to establish and extend existing methods for the perinatal diagnosis of inborn errors of metabolism by the measurement of a wide range of enzyme activities, with particular emphasis on those associated with sphingolipid storage disorders.
W.F. Carey, G.N. Hill, A. Croser, A.C. Pollard   +3 more
openaire   +1 more source

Inborn Errors of Lipid Metabolism: Early Identification

Clinics in Perinatology, 1976
Early recognition of the seven major lipidoses in early infancy is discussed and the potential for prenatal diagnosis is considered. Establishment of such diagnosis constitutes a massive threat for the infant and is a critical assault upon family equilibrium. In view of this, treatment issues common to all seven syndromes are presented.
openaire   +2 more sources

The Kinetics and Remodeling of HDL Particles: Lessons from Inborn Errors of Lipid Metabolism

2010
Low levels of high density lipoprotein (HDL) cholesterol have been associated with an increased risk of coronary heart disease. In the previous chapter, we have described the presence of distinct apolipoprotein A-I containing HDL particles beginning with small discoidal precursor HDL particles known as preβ-1 HDL and ending with large mature spherical ...
Bela F. Asztalos, John Brunzell
openaire   +1 more source

Inborn Errors of Lipid Metabolism (Mitochondrial Fatty Acid Oxidation)

1998
During fetal life, fatty acids and lipids are used almost exclusively for anabolism in cellular growth, synthesis, and differentiation. The fetal respiratory quotient of approximately 1.0 indicates that essentially no lipid is used as a fuel for energy production.
openaire   +1 more source

Inborn Errors of Immunity and Cancer

Biology, 2021
Andrea Pession, Riccardo Masetti, Francesca Conti   +2 more
exaly  

Fructose and Mannose in Inborn Errors of Metabolism and Cancer

Metabolites, 2021
Jiyeon Kim
exaly  

INBORN ERRORS OF LIPID METABOLISM

Human Heredity, 1957
openaire   +2 more sources

Epigenetic Alterations in Inborn Errors of Immunity

Journal of Clinical Medicine, 2022
Andrea Riccio, Laura Pignata, Emilia Cirillo   +2 more
exaly  

Understanding Inborn Errors of Metabolism through Metabolomics

Metabolites, 2022
Peter Witters, Karen Driesen
exaly  

Inborn errors of lipid metabolism

Clinical and Experimental Dermatology, 1989
openaire   +1 more source