aspartylglucosaminuria/creatinină

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Urinary sialic acid levels in aspartylglycosaminuria.

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Urinary sialoglycoconjugates were studied in 22 patients with inherited deficiency of 1-aspartamido-beta-N-acetylglucosamine amidohydrolase (aspartylglycosaminuria), in eight obligate heterozygotes, and in age- and sex-matched control subjects. Total sialic acid excretion was significantly higher in

Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.

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Urinary excretion of aspartylglycosamines was investigated in eight patients by semiquantitative thin-layer chromatography, and bound glycosamines by a quantitative photometric method (Elson-Morgan reaction). Each patient showed a fairly constant level, relative to the creatinine, of

Quantitative determination of 4-N-2-acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine in the urine of patients with aspartylglycosaminuria by gas-liquid chromatography.

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A specific and sensitive method for the quantitative ;determination of glcNAc-Asn in the urine of patients with inherited deficiency of the lysosomal hydrolase N-aspartyl-beta-glucosaminidase is reported. The method is based on GLC assay of GlcNAc-Asn as its methylated derivative and requires 100

Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases.

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BACKGROUND There are 45 known genetic diseases that impair the lysosomal degradation of macromolecules. The loss of a single lysosomal hydrolase leads to the accumulation of its undegraded substrates in tissues and increases of related glycoconjugates in urine, some of which can be detected by

Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease.

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Eighty-five clinical urine samples and nineteen urine samples previously found by other laboratories to suggest genetic metabolic defects were prepared for trimethylsilylation by treatment with urease, followed by azeotropic dehydration. The "Target Analyte Search" program provided with the VG Trio

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.

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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

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