fucosidosis/tambazi

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

2 matokeo

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

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Ingia / Ingia

BACKGROUND The first step in the diagnosis of oligosaccharidoses is to evidence abnormal oligosaccharides excreted in urine, usually performed by the poorly sensitive but efficient thin layer chromatography (TLC) method. Developing a tandem mass spectrometry (MS/MS) technique could be of great

The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update.

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Ingia / Ingia

A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage

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Herbal & Natural Medicine

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