beta-mannosidosis/クレアチニン

Ultrasound-guided fetal fluid sampling was performed on 13 pregnant goats at Days 59 to 65 of gestation to establish safe techniques for accurate sampling and to determine the feasibility of prenatal diagnosis of beta-mannosidosis. Fluids were analyzed for electrolyte and creatinine content to

Until recently, there have not been any confirmed reports of beta-mannosidase deficiency in man. We have now analysed urine from two patients with confirmed beta-mannosidase deficiency and have found Man-beta(1-4)GlcNAc concentrations of 65 and 73 mg/mmol creatinine. These levels are at least 12

BACKGROUND The glycoproteinoses are a subgroup of lysosomal storage diseases (LSDs) resulting from impaired degradation of N-linked oligosaccharide side chains of glycoproteins, which are commonly screened by detecting the accumulated free oligosaccharides (FOSs) in urine via thin layer