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Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings
In multiple carboxylase deficiency (MCD), the biotin-dependent carboxylases have decreased activity due to either biotinidase deficiency or holocarboxylase synthetase (HS) deficiency. We report the case of two siblings from Ghana, the first of which presented shortly after birth with profound lactic...
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| Publicado en: | JIMD Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4375121/ https://ncbi.nlm.nih.gov/pubmed/25690727 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_367 |
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