Quantification of Free Sialic Acid in Urine by HPLC–Electrospray Tandem Mass Spectrometry: A Tool for the Diagnosis of Sialic Acid Storage Disease | Zendy

Fredoen Valianpour | Zendy; N.G.G.M. Abeling | Zendy; Marinus Durán | Zendy; J. G. M. Huijmans | Zendy; Willem Kulik | Zendy

Open Access

Quantification of Free Sialic Acid in Urine by HPLC–Electrospray Tandem Mass Spectrometry: A Tool for the Diagnosis of Sialic Acid Storage Disease

Author(s) -

Fredoen Valianpour,

N.G.G.M. Abeling,

Marinus Durán,

J. G. M. Huijmans,

Willem Kulik

Publication year - 2004

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2003.027169

Subject(s) - sialic acid , chemistry , chromatography , creatinine , urine , tandem mass spectrometry , electrospray ionization , selected reaction monitoring , detection limit , mass spectrometry , high performance liquid chromatography , biochemistry

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 by quantification of free sialic acid in urine.

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