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Requirement of high biotin doses in a case of biotinidase deficiency

✍ Scribed by E. Riudor; M. A. Vilaseca; P. Briones; A. Ribes; J. Suñé; R. Martorell; A. Macaya; M. Roig; A. Ballabriga


Book ID
105312318
Publisher
Springer
Year
1989
Tongue
English
Weight
175 KB
Volume
12
Category
Article
ISSN
0141-8955

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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