Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Rheumatology"
DOI: 10.1007/s10067-021-05711-w
Abstract: Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic mutations in ADA2 gene (previously CECR1). The aim of this review was to describe the clinical phenotypes, genetics, pathogenesis and treatment of… read more here.
Keywords: haematological manifestations; treatment; disease; phenotypes genetics ... See more keywords
Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Pediatric Endocrinology"
DOI: 10.1186/s13633-020-00091-5
Abstract: Background Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical… read more here.
Keywords: clinical phenotypes; genetics; bickel syndrome; fanconi bickel ... See more keywords