Hypohomocysteinaemia and highly increased proportion of S -sulfonated plasma transthyretin in molybdenum cofactor deficiency

作者: J. O. Sass , M. Kishikawa , R. Puttinger , J. Reiss , W. Erwa

DOI: 10.1023/A:1024091900547

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参考文章(4)
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J. Reiss, C. Dorche, B. Stallmeyer, R.R. Mendel, N. Cohen, M.T. Zabot, Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. American Journal of Human Genetics. ,vol. 64, pp. 706- 711 ,(1999) , 10.1086/302296
Masahiko Kishikawa, Toyofumi Nakanishi, Akira Shimizu, Makoto Yoshino, Detection by Mass Spectrometry of Highly Increased Amount of S- Sulfonated Transthyretin in Serum from a Patient with Molybdenum Cofactor Deficiency Pediatric Research. ,vol. 47, pp. 492- 494 ,(2000) , 10.1203/00006450-200004000-00013
Masahiko Kishikawa, Jörn Oliver Sass, Nobuo Sakura, Toyofumi Nakanishi, Akira Shimizu, Masanori Yoshioka, The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry. Biochimica et Biophysica Acta. ,vol. 1588, pp. 135- 138 ,(2002) , 10.1016/S0925-4439(02)00156-4