Slavin, T. P.;
Zaidi, S. J.;
Neal, C.;
Nishikawa, B.;
Seaver, L. H.
JIMD Reports: Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation
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Media type:
E-Article
Title:
JIMD Reports: Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation
Contributor:
Slavin, T. P.;
Zaidi, S. J.;
Neal, C.;
Nishikawa, B.;
Seaver, L. H.