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Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome

BACKGROUND: Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the clinical features of neonatal DJS and to analyze the genetic mutation of adenosine...

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Detalles Bibliográficos
Autores principales: Kim, Kwang Yeon, Kim, Tae Hyeong, Seong, Moon-Woo, Park, Sung Sup, Moon, Jin Soo, Ko, Jae Sung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7404915/
https://www.ncbi.nlm.nih.gov/pubmed/32758197
http://dx.doi.org/10.1186/s12887-020-02260-0