The transport of specific molecules across lipid membranes is an essential function of all
living organisms. The processes are usually mediated by specific transporters. One of the …

Background Remethylation defects are rare inherited disorders in which impaired
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A
genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the …

Newborn screening (NBS) is justified if early intervention is effective in a disorder generally
not detected early in life on a clinical basis, and if sensitive and specific biochemical markers …

Vitamin B12, also known as cobalamin, is a water-soluble vitamin that is important in the
hematological and nervous systems, and it has a complex relationship with the skin. Altered …

Background Congenital nephrotic syndrome arises from a defect in the glomerular filtration
barrier that permits the unrestricted passage of protein across the barrier, resulting in …

Inherited disorders of B 12 metabolism produce a broad spectrum of manifestations, with
limited knowledge of the influence of age and the function of related genes. We report a …

Whole exome sequencing (WES) has greatly facilitated the identification of causal mutations
for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to …

The present study reports the simultaneous analysis of 26 physiological amino acids in
plasma along with total cysteine and homocysteine by high-performance liquid …

Disorders of intracellular cobalamin metabolism have a variable phenotype and age of
onset that are influenced by the severity and location within the pathway of the defect. The …