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A case of classic galactosemia manifesting as neonatal early and profound indirect hyperbilirubinemia
Galactosemia is a rare autosomal recessive metabolic disorder that has three major types. The most common type is classic galactosemia. These patients have deficient galactose-1-phosphate-urydiltransferase. The enzyme deficiency often results in symptomatic disease if breastfeeding or lactose-contai...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Kare Publishing
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536454/ https://www.ncbi.nlm.nih.gov/pubmed/33061763 http://dx.doi.org/10.14744/TurkPediatriArs.2019.21298 |