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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

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

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

Clinical and Experimental Dermatology, 1989
openaire   +1 more source

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Science, 2020
Qian Zhang, Paul Bastard, Zhiyong Liu
exaly  

Severe COVID-19 in the young and healthy: monogenic inborn errors of immunity?

Nature Reviews Immunology, 2020
Shen-Ying Zhang   +2 more
exaly  

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