Work

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS

Year: 2017

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2017.05.005

Authors: Frederico S. Regateiro, Serkan Belkaya, Nélson Neves, Sandra Ferreira, Paula Silvestre, Sónia Lemos, Margarida Venâncio, Jean-Laurent Casanova, Isabel Gonçalves, Emmanuelle Jouanguy, Luísa Diogo

Institutions: Unidade Local de Saúde de Coimbra, University of Coimbra, Rockefeller University, Unidade Local de Saúde de Castelo Branco EPE, Hôpital Necker-Enfants Malades, Howard Hughes Medical Institute, Inserm, Institut des Maladies Génétiques Imagine, Université Paris Descartes

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2621164587

FWCI: 3.09

Cites: 13

Cited by: 28

Related to: 10