nucleotide pyrophosphatase/proteinuria

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Polymorphism in ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1/PC-1) and early development of advanced diabetic nephropathy in type 1 diabetes.

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A polymorphism in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1) (previously known as PC-1), resulting in an amino acid change from lysine to glutamine at codon 121 (K121Q), is associated with insulin resistance. A small follow-up study of patients with type 1 diabetes and

Biochemical studies on Lowe's syndrome.

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Lowe's syndrome (oculo-cerebro-renal syndrome) has been studied biochemically. The disease was characterized by proteinuria, sialic aciduria and the excretion of undersulfated chondroitin sulfate A due mainly to malfunction of renal tubules. However, cultured skin fibroblasts from patients were

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