Search for "Inborn errors of metabolism" in article titles:

1. Inborn errors of metabolism: Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products ... (Class of genetic diseases) [100%] 2023-11-22 [Inborn errors of metabolism] [Medical genetics]...
2. Inborn errors of metabolism: Inborn errors of metabolism are genetic disorders in which the body cannot properly turn food into energy or breakdown waste products. The disorders are usually caused by defects in specific enzymes that help metabolize, catabolize or synthesize chemical compounds. [100%] 2023-11-22
3. Inborn errors of metabolism: Biodynamic Enzymology enhances - at this historical moment in which science is focused on "omics" (genomics, transcriptomic, proteomics, lipidomics, etc.) - the central metabolic role of enzymes, the real workers from whose silent and tireless work depends the well-being of all ... (Medicine) [100%] 2023-11-22 [Medical genetics] [Metabolism]...
4. Inborn errors of steroid metabolism: An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism. A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the steroidogenic enzymes involved in the process, of which ... (Medicine) [89%] 2023-11-22 [Genetic diseases and disorders] [Rare diseases]...
5. Inborn errors of steroid metabolism: An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism. A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the steroidogenic enzymes involved in the process, of which ... [89%] 2023-11-22 [Adrenal gland disorders] [Cholesterol and steroid metabolism disorders]...
6. Inborn errors of purine-pyrimidine metabolism: Articles Most recent articles on Inborn errors of purine-pyrimidine metabolism Most cited articles on Inborn errors of purine-pyrimidine metabolism Review articles on Inborn errors of purine-pyrimidine metabolism Articles on Inborn errors of purine-pyrimidine metabolism in N ... [81%] 2023-11-18
7. Inborn errors of purine–pyrimidine metabolism: Inborn errors of purine–pyrimidine metabolism are a class of inborn error of metabolism disorders specifically affecting purine metabolism and pyrimidine metabolism. An example is Lesch–Nyhan syndrome. [81%] 2023-11-22 [Inborn errors of purine-pyrimidine metabolism]
8. Inborn errors of purine–pyrimidine metabolism: Inborn errors of purine–pyrimidine metabolism are a class of inborn error of metabolism disorders specifically affecting purine metabolism and pyrimidine metabolism. An example is Lesch–Nyhan syndrome. [81%] 2024-01-07 [Inborn errors of purine-pyrimidine metabolism]