Biotin-responsive Disorders
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-642-15720-2_27
Reference67 articles.
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3. Baumgartner ER, Suormala T (1997) Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. Int J Vit Nutr Res 67:377–384
4. Sakamoto O, Suzuki Y, Li X et al. (2000) Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency. Eur J Pediatr 159:18–22
5. Suormala T, Fowler B, Duran M et al. (1997) Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative studies in vitro. Pediatr Res 41:666–673
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