mucopolysaccharidosis iii/carbohydrate

Background: Sanfilippo syndrome B (or mucopolysaccharidosis type IIIB [MPS IIIB]) is a severe inherited metabolic disorder caused by mutations in the NAGLU gene, encoding α-N-acetylglucosaminidase. Dysfunction of this enzyme results in

The Sanfilippo syndrome type B (MPS III B) is an autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase (EC 3. 2.1.50), one of the lysosomal enzymes required for the degradation of heparan sulfate. The disease is characterized by profound neurodegeneration but relatively

The monogenic defects in specific lysosomal enzymes in mucopolysaccharidosis (MPS) III lead to lysosomal storage of glycosaminoglycans and complex CNS and somatic pathology, for which the detailed mechanisms remain unclear. In this study, serum samples from patients with MPS IIIA (age 2-9 yr) and

BACKGROUND Mucopolysaccharidoses (MPSs) are a group of severe metabolic disorders caused by deficiencies in enzymes involved in the degradation of glycosaminoglycans (GAGs)-long chains of sugar carbohydrates in cells that help build bone, cartilage, tendons, corneas, skin, and connective tissue.

Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disease with complex CNS and somatic pathology due to a deficiency in α-N-acetylglucosaminidase (NAGLU). Using global metabolic profiling by mass spectrometry targeting 361 metabolites, this study detected significant decreases in 225 and

The buffalo has a seasonal reproduction activity with mating and non-mating periods occurring from late autumn to winter and from late spring to beginning of autumn, respectively. Sperm glycocalyx plays an important role in reproduction as it is the first interface between sperm and environment.

The results of screening for inborn errors of metabolism in patients in six institutions for the mentally retarded in Lower Saxony are presented. A battery of standard chemical and chromatographic tests for amino acids, carbohydrates and mucopolysaccharides in urine were employed. Combined gas

The mucopolysaccharidoses (MPS) are a group of rare diseases characterized by deficiencies in different enzymes required for degradation of complex carbohydrates. The enzymatic deficiencies lead to lysosomal accumulation of dermatan sulphate, heparan sulphate, and keratan sulphate in different

Water-soluble polysaccharides were extracted from the fruit pulps of Melia azedarach and some columns were undertaken to isolate the major polysaccharide (MPS-III). Its structural features were elucidated by IR analysis, carbohydrate analysis, periodate oxidation, Smith degradation, methylation