Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation
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Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/8904_2013_252
Reference13 articles.
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4. Dupuis L, Campeau E, Leclerc D, Gravel RA (1999) Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. Mol Genet Metab 66:80–90
5. Esaki S, Malkaram SA, Zempleni J (2012) Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis. Eur J Hum Genet 20:428–433
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