Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101428
Abstract: Variants in SCYL1 can cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). The encoded protein is involved in intracellular trafficking between Golgi and ER, specific mechanisms are still to be… read more here.
Keywords: patient calfan; calfan syndrome; stem cell; syndrome due ... See more keywords
The Outcomes of an Individualized Physical Therapy Program in CALFAN Syndrome: A Case Report
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Physical Therapy"
DOI: 10.1097/pep.0000000000000903
Abstract: This case report investigated the effectiveness of an individualized physical therapy program in CALFAN syndrome. Purpose: This case report investigated the effectiveness of an individualized physical therapy program in CALFAN syndrome. Case Description: A 13-year-old… read more here.
Keywords: case report; physical therapy; calfan syndrome; therapy ... See more keywords