Biotin (vitamin B7, or vitamin H) is a water-soluble B-vitamin that functions as a cofactor for
carboxylases, ie, enzymes involved in the cellular metabolism of fatty acids and amino acids …

Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored
the distribution and characteristics of IEMs in newborns, the impact of these disorders on …

Background Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and
clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues …

Objective To evaluate the knowledge and experiences of healthcare workers in the
management of neurometabolic disorders. Methods A cross-sectional study was carried out …

Tandem mass spectrometry (MS/MS) for diagnosing inborn errors of metabolism (IEM) is
recognized as an ethical, safe, simple, and reliable screening test. Presented bibliometric …

Metabolic diseases exert multi-faceted burdens, including health, economic, emotional, and
social burdens, on sick individuals and their families, and on public health systems. This …