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Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency

โœ Scribed by J. Greter; E. Holme; S. Lindstedt; M. Koivikko

Book ID
105317458
Publisher
Springer
Year
1985
Tongue
English
Weight
249 KB
Volume
8
Category
Article
ISSN
0141-8955

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Intestinal absorption and renal excretio
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โœ T. Suormala; H. Wick; J. -P. Bonjour; E. R. Baumgartner ๐Ÿ“‚ Article ๐Ÿ“… 1985 ๐Ÿ› Springer ๐ŸŒ English โš– 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