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Holocarboxylase synthetase deficiency pre and post newborn screening
Holocarboxylase synthetase deficiency is an autosomal recessive disorder of biotin metabolism resulting in multiple carboxylase deficiency. The typical presentation described in the medical literature is of neonatal onset within hours to weeks of birth with emesis, hypotonia, lethargy, seizures, met...
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| Publicado no: | Mol Genet Metab Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4832086/ https://ncbi.nlm.nih.gov/pubmed/27114915 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.03.007 |
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