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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Detalles Bibliográficos
Autores principales: Donti, Taraka R., Blackburn, Patrick R., Atwal, Paldeep S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832086/
https://www.ncbi.nlm.nih.gov/pubmed/27114915
http://dx.doi.org/10.1016/j.ymgmr.2016.03.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832086/
https://www.ncbi.nlm.nih.gov/pubmed/27114915
http://dx.doi.org/10.1016/j.ymgmr.2016.03.007

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