Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A‐deficient immortalized mesenchymal stromal cells
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23306
Abstract: Metachromatic leukodystrophy (MLD) is an autosomal‐recessive lysosomal storage disease caused by mutations in the ARSA gene leading to arylsulfatase A (ARSA) deficiency and causing sulfatide accumulation. Main symptoms of the disease are progressive demyelination, neurological… read more here.
Keywords: mesenchymal stromal; arsa; deficient; stromal cells ... See more keywords
Isolated aberrant right subclavian artery at 14‐16 weeks of gestation and Down syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Ultrasound"
DOI: 10.1002/jcu.22543
Abstract: Dear Editor, Aberrant right subclavian artery (ARSA) is the most common embryologic abnormality of the aortic arch. Typically, 3 large arteries arise from the aortic arch: the brachiocephalic trunk, the left common carotid artery, and… read more here.
Keywords: isolated arsa; arsa; anatomy; right subclavian ... See more keywords
Contemporary Management and Natural History of Aberrant Right Subclavian Artery.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of vascular surgery"
DOI: 10.1016/j.jvs.2021.11.051
Abstract: OBJECTIVE Aberrant right subclavian artery (ARSA) is the most common congenital anomaly of the aortic arch. There is a paucity of literature regarding the management of these patients. The purpose of this study was to… read more here.
Keywords: arsa; management; subclavian artery; right subclavian ... See more keywords
Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation
Sign Up to like & getrecommendations! Published in 2023 at "PLOS ONE"
DOI: 10.1371/journal.pone.0282304
Abstract: Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disease caused by a deficiency in the arylsulfatase A (ARSA). ARSA deficiency leads to sulfatide accumulation, which involves progressive demyelination. The profound impact of early diagnosis on… read more here.
Keywords: whole exome; metachromatic leukodystrophy; arsa; simulation ... See more keywords
Anatomic Investigation of Two Cases of Aberrant Right Subclavian Artery Syndrome, Including the Effects on External Vascular Dimensions
Sign Up to like & getrecommendations! Published in 2020 at "Diagnostics"
DOI: 10.3390/diagnostics10080592
Abstract: The retroesophageal aberrant right subclavian artery (ARSA) is a variation of the aortic arch that occurs asymptomatically in most patients. However, when symptomatic, it is most commonly associated with dysphagia. ARSA has also been noted… read more here.
Keywords: arsa; subclavian artery; anatomic investigation; right subclavian ... See more keywords
A Visit to Wittig and Arsa-Wittig Reactions
Sign Up to like & getrecommendations! Published in 2020 at "Revista De Chimie"
DOI: 10.37358/rc.20.8.8273
Abstract: Some considerations regarding the mechanism of arsa-Wittig condensation have been supplemented with the synthesis of compounds substituted with the nitro to phenyl and various alkyl groups to the azulene moiety. For several unknown meta-substituted 1-styrylazulenes… read more here.
Keywords: arsa wittig; arsa; visit wittig; wittig arsa ... See more keywords