Results 131 to 140 of about 19,908 (200)

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.
C. Stanley
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   +2 more sources

Ocular manifestations of inborn errors of carbohydrate and lipid metabolism.

Bibliotheca ophthalmologica : supplementa ad ophthalmologica, 1975
F. W. Newell
semanticscholar   +4 more sources

Radioisotope-labelled substrates in enzyme assays with special reference to the preparation of radiolabelled glycosphingolipids and their use in the diagnosis of inborn errors of complex lipid metabolism

Pathology, 1977
Radioactive substrates are being used increasingly in assays for enzymes that are present at very low levels of activity, particularly if artificial chromogenic or fluorogenic substrates are unavailable, or have varying sensitivity towards different isoenzymes. Frequently, these radioactive substrates are commercially unavailable, and must be prepared.
W.F. Carey, A. Poulos, A.C. Pollard
openaire   +2 more sources

The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors.

Molecular Genetics and Metabolism, 2022
Acetyl-coenzyme A (Ac-CoA) is a core metabolite with essential roles throughout cell physiology. These functions can be classified into energetics, biosynthesis, regulation and acetylation of large and small molecules.
Youlin Wang, Hao Yang, Chloé Geerts, A. Furtos, P. Waters, D. Cyr, Shupei Wang, G. Mitchell   +7 more
semanticscholar   +1 more source

Inborn Errors of Lipid Metabolism and Lysosomal Storage Disorders

1975
M. Philippart
openaire   +2 more sources

Liver-directed gene-based therapies for inborn errors of metabolism

Expert Opinion on Biological Therapy, 2020
Introduction Inborn errors of metabolism include several genetic disorders due to disruption of cellular biochemical reactions. Although individually rare, collectively they are a large and heterogenous group of diseases affecting a significant ...
Pasquale Piccolo, A. Rossi, N. Brunetti‐Pierri   +2 more
semanticscholar   +1 more source

AN INBORN ERROR OF LIPID METABOLISM

Pediatrics, 1959
The present report concerns a new clinical syndrome characterized by hepatomeggaly, retardation of physical and mental growth, and a disturbance of lipids in the plasma. The abnormalities are present in two siblings born of parents who are second cousins. As far as can be determined, none of the six other siblings is affected.
J A, BIGLER, R F, MAIS, R M, DOWBEN, D Y, HSIA   +3 more
openaire   +2 more sources

Inborn errors of mitochondrial acyl-coenzyme a metabolism: acyl-CoA biology meets the clinic.

Molecular Genetics and Metabolism, 2019
The last decade saw major advances in understanding the metabolism of Coenzyme A (CoA) thioesters (acyl-CoAs) and related inborn errors (CoA metabolic diseases, CAMDs).
Hao Yang, Chen Zhao, Marie-Christine Tang, Youlin Wang, Shu Pei Wang, P. Allard, A. Furtos, G. Mitchell   +7 more
semanticscholar   +1 more source

Inborn Errors of Metabolism and Pregnancy.

American Journal of Obstetrics & Gynecology MFM
As the diagnosis and treatment of patients with inborn errors of metabolism has improved dramatically over the years, more people with these conditions are surviving into child-bearing years.
Kristen Murphey, Iris Krishna, Hong Li
semanticscholar   +1 more source