DÉFICE DE CITRINA

Autor: Maria do Rosário Stilwell, Claudia Silva, Inês Madureira, Rita Bellegarde Machado, Sara Nóbrega, António Pedro Campos, Ana Cristina Ferreira

Publikováno v: Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa); Vol. 51 No. 3 (2020)
Portuguese Journal of Pediatrics; vol. 51 n.º 3 (2020)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 51, Iss 3 (2020)

We report a case of Neonatal Intrahepatic Cholestasis due to Citrin Deficiency in a 2-month-old female of Chinese descent who presented with jaundice and acholic stool. She had poor weight gain, axial hypotonia and large anterior fontanelle with no d

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