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sialic acid storage disease/creatinine

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NakalaMajaribio ya klinikiHati miliki
4 matokeo

Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
The renal handling of free sialic acid, a negatively charged sugar, was investigated in normal humans and in patients with impaired sialic acid metabolism or impaired renal function. A sensitive assay for sialic acid, based upon the specific degradation of free sialic acid by N-acetylneuraminic acid

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Sialuria, a disorder of sialic acid (NeuAc) metabolism characterized by increased free NeuAc in the cytoplasm of cells, is due to failure of CMP-Neu5Ac to feedback inhibit UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase. We now describe the fifth patient in the world with sialuria, a 7-year-old
BACKGROUND Sialic acid storage diseases (SSDs) are severe autosomal recessive neurodegenerative disorders caused by a transport defect across the lysosomal membrane, which leads to accumulation of sialic acid in tissues, fibroblasts, and urine. Defective free sialic acid transport can be established

Comparison of sialic acids excretion in spot urines and 24-hour-urines of children and adults.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Sialic acids comprise all N- and O-acyl derivatives of neuraminic acid and are components of glycoproteins and glycolipids. Their concentrations vary physiologically with age but also in diseases such as inflammation, neoplastic tumours or in inborn genetic disorders causing abnormal sialic acid
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