Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem
mass spectrometry through a worldwide collaborative effort. Methods: Cumulative …

Enzyme and chaperone therapies are used to treat Fabry disease. Such treatments are
expensive and require intrusive biweekly infusions; they are also not particularly efficacious …

BACKGROUND: Fabry disease is characterized by accumulation of glycosphingolipids,
such as globotriaosylceramide (Gb3), in many tissues and body fluids. A novel plasma …

Solute carrier family 1, member 1 (SLC1A1; also known as EAAT3 and EAAC1) is the major
epithelial transporter of glutamate and aspartate in the kidneys and intestines of rodents …

Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to
the development of triple quadrupole analyzers, it is becoming more widely used in …

Iminoglycinuria (IG) is an autosomal recessive abnormality of renal transport of glycine and
the imino acids proline and hydroxyproline, but the specific genetic defect (s) have not been …

Fabry disease is a lysosomal storage disorder caused by deficiency of α-galactosidase A,
resulting in glycosphingolipid accumulation in organs and tissues, including plasma and …

Mucopolysaccharidoses (MPSs) are complex storage disorders caused by specific
lysosomal enzyme deficiencies, resulting in the accumulation of glycosaminoglycans …

Fabry disease is a complex, multisystemic and clinically heterogeneous disease, in which
the urinary excretion of globotriaosylceramide (Gb3), the principal substrate of the deficient …

Fabry disease is a lysosomal storage disorder caused by the absence or reduction of α-
galactosidase A enzyme activity. The enzymatic deficiency results in the impaired …