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Biotinidase Deficiency Associated with Renal Loss of Biocytin and Biotin

✍ Scribed by E. REGULA BAUMGARTNER; TERTTU SUORMALA; HUGO WICK; JOCHEN BAUSCH; JEAN-PIERRE BONJOUR


Book ID
118722437
Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
758 KB
Volume
447
Category
Article
ISSN
0890-6564

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Intestinal absorption and renal excretio
✍ T. Suormala; H. Wick; J. -P. Bonjour; E. R. Baumgartner πŸ“‚ Article πŸ“… 1985 πŸ› Springer 🌐 English βš– 609 KB

We have investigated four patients from three unrelated families with typical clinical and biochemical features of "late-onset" multiple carboxylase deficiency. All patients suffered from biotinidase deficiency (plasma biotinidase activities 1.4%-3% of normal). Intestinal absorption of biotin, measu