Accès ouvert
2025
article
OpenAlex
Keit Men Wong, Reza Maroofian, Kolja Meier, Susann Diegmann et autres
BACKGROUND: Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie …
us, de, gb, ge, sa
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Tinatin Tkemaladze, Kakha Bregvadze, Luka Abashishvili, Gocha Chikvinidze et autres
Pathogenic variants in IGHMBP2 have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Autosomal Recessive Charcot-Marie-Tooth disease type 2S (AR-CMT2S), as well as a relatively wide spectrum of rare, atypical phenotypes. We describe clinical and molecular features …
ge, se, pk
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Kakha Bregvadze, Luka Abashishvili, Nana Nino Tatishvili, Teona Shatirishvili et autres
copies. Although SMA is one of the most common autosomal recessive disorders, molecular diagnosis still presents challenges. We present a case series illustrating the variable clinical presentations and diagnostic complexities of spinal muscular atrophy (SMA). Case 1 highlights the importance of multiplex …
ge, us, de
(code pays fourni par la source)