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Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency

โœ Scribed by Sakamoto, O.; Suzuki, Y.; Li, X.; Aoki, Y.; Hiratsuka, M.; Holme, E.; Kudoh, J.; Shimizu, N.; Narisawa, K.


Book ID
113042809
Publisher
Springer
Year
2000
Tongue
English
Weight
125 KB
Volume
159
Category
Article
ISSN
0340-6997

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Holocarboxylase synthetase is one of two enzymes known to be involved in the metabolism of biotin. It catalyses the fixation of biotin to inactive apocarboxylases yielding active carboxylases. Deficiency of this enzyme leads to multiple carboxylase deficiency which is fatal in the absence of prompt