Results 161 to 170 of about 11,732 (218)
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Inborn Errors of Lipid Metabolism: Early Identification
Clinics in Perinatology, 1976Early 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.
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Inborn Errors of Lipid Metabolism (Mitochondrial Fatty Acid Oxidation)
1998During 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.
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The Kinetics and Remodeling of HDL Particles: Lessons from Inborn Errors of Lipid Metabolism
2010Low 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
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Inborn errors of lipid metabolism
Clinical and Experimental Dermatology, 1989openaire +1 more source
Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism
American Journal of Ophthalmology, 1975openaire +3 more sources
[Inborn errors of lipid metabolism].
Bruxelles medical, 1998J, FREZAL, J, REY
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The American Journal of Medicine, 1965
R. Richterich, P. van Mechelen, E. Rossi
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R. Richterich, P. van Mechelen, E. Rossi
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science, 2020Qian Zhang, Paul Bastard, Zhiyong Liu
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Severe COVID-19 in the young and healthy: monogenic inborn errors of immunity?
Nature Reviews Immunology, 2020Shen-Ying Zhang +2 more
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