Associated Papers
Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.
Kim SW et al.
Molecular Genetics & Genomic Medicine, 2024
Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review.
Gaschignard M et al.
Frontiers in Genetics, 2024
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency.
Meguro M et al.
Molecular Genetics and Metabolism Reports, 2022
Severe neonatal holocarboxylase synthetase deficiency in west african siblings.
De Castro M et al.
Jimd Reports, 2015
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