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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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Publicado en:BMC Pediatr
Main Authors: Kim, Kwang Yeon, Kim, Tae Hyeong, Seong, Moon-Woo, Park, Sung Sup, Moon, Jin Soo, Ko, Jae Sung
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7404915/
https://ncbi.nlm.nih.gov/pubmed/32758197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-02260-0
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