Concepedia

Hypohomocysteinaemia and highly increased proportion of <i>S</i>‐sulfonated plasma transthyretin in molybdenum cofactor deficiency

Jörn Oliver Sass, M. Kishikawa, Rudolf Puttinger, Jochen Reiss, Wolfgang Erwa, Akira Shimizu, Wolfgang Sperl

Journal of Inherited Metabolic Disease · 2003 · 10 citations · 4 references

DOI

Concepts

References

4

Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B

Jochen Reiss, C. Dorche, Birgit Stallmeyer et al. · The American Journal of Human Genetics · 1999 · 90 citations · Full text

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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

Masahiko Kishikawa, Jörn Oliver Sass, Nobuo Sakura et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2002 · 28 citations

, , +9

Ahomocysteinemia in molybdenum cofactor deficiency

W. Graf, O. E. Oleinik, Rhona M. Jack et al. · Neurology · 1998 · 25 citations

, , +11

Detection by Mass Spectrometry of Highly Increased Amount of S- Sulfonated Transthyretin in Serum from a Patient with Molybdenum Cofactor Deficiency

Masahiko Kishikawa, Toyofumi Nakanishi, Akira Shimizu et al. · Pediatric Research · 2000 · 17 citations

, , +6