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Successful pregnancy in a treated patient with biotinidase deficiency

✍ Scribed by C. J. Hendriksz; M. A. Preece; A. Chakrapani


Publisher
Springer
Year
2005
Tongue
English
Weight
72 KB
Volume
28
Category
Article
ISSN
0141-8955

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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