Zobrazeno 1 - 10
of 531
pro vyhledávání: '"ARSA"'
Autor:
Chi-Chih Chen, Yu-Ru Huang, Yuen Ting Chan, Hung-Yun Lin, Han-Jia Lin, Chwan-Deng Hsiao, Tzu-Ping Ko, Tai-Wen Lin, Ya-Hsuan Lan, Hsuan-Ya Lin, Hsin-Yang Chang
Publikováno v:
BMC Biology, Vol 22, Iss 1, Pp 1-17 (2024)
Abstract Background Most tail-anchored (TA) membrane proteins are delivered to the endoplasmic reticulum through a conserved posttranslational pathway. Although core mechanisms underlying the targeting and insertion of TA proteins are well establishe
Externí odkaz:
https://doaj.org/article/8e3d4dc10eac493b9b8ce1677302e4c0
Publikováno v:
Journal of Vascular Surgery Cases and Innovative Techniques, Vol 10, Iss 4, Pp 101536- (2024)
We present a rare anatomical configuration of a 19-year-old woman, characterized by descending thoracic aortic aneurysm with right aberrant subclavian arteries with a Kommerell's diverticulum in a left aortic arch. The complexity of this vascular ano
Externí odkaz:
https://doaj.org/article/323d9d07baf24c73a52b14695f5ff45e
Publikováno v:
BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Objective We aimed to investigate the significance of autophagy proteins and their association with clinical data on pregnancy loss in polycystic ovary syndrome (PCOS), while also constructing predictive models. Methods This study was a seco
Externí odkaz:
https://doaj.org/article/c09501263e134f27a1c44f417ea8d25f
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Objective To understand the benefit-risk profile for historical and current treatments for MLD. Methods A systematic review was conducted on the effectiveness, safety, and costs of MLD treatments: allogeneic haematopoietic stem cell transpla
Externí odkaz:
https://doaj.org/article/35522a495033463991e77a95135e1294
Autor:
Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, Judith Boehringer, Benjamin Bender, Volkmar Gieselmann, Stefanie Beck‐Woedl, Gernot Bruchelt, Klaus Harzer, Ingeborg Kraegeloh‐Mann, Samuel Groeschel
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 292-302 (2022)
Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in
Externí odkaz:
https://doaj.org/article/4a3ea2bf39934c278c9a7f0dbf03854f
Autor:
Pavithra C. Subramanian, Naveen Chidanandaswamy, Raghuraman Soundararajan, Harish Bhujade, Nidhi Prabhakar
Publikováno v:
Indian Journal of Radiology and Imaging, Vol 33, Iss 01, Pp 117-120 (2023)
An aberrant right subclavian artery (ARSA), also called as arteria lusoria, is one of the most common aortic arch anomalies. ARSA–esophageal fistula is a rare, life-threatening complication, with only 37 cases reported in literature. We describe a
Externí odkaz:
https://doaj.org/article/869c58bb587b417da36a203952120a18
Autor:
Roland Axt-Fliedner, Asia Nazar, Ivonne Bedei, Johanna Schenk, Maleen Reitz, Stefan Rupp, Christian Jux, Aline Wolter
Publikováno v:
Diagnostics, Vol 14, Iss 3, p 238 (2024)
We aimed to evaluate retrospectively associated anomalies and outcome in prenatal aortic arch anomalies (AAAs). We included ninety patients with aberrant right subclavian artery (ARSA), right aortic arch (RAA) with mirror image branching (RAA-mirror)
Externí odkaz:
https://doaj.org/article/9b41969c9b55483c80ac586c89a230c7
Akademický článek
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Publikováno v:
Medicina, Vol 59, Iss 10, p 1838 (2023)
The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional
Externí odkaz:
https://doaj.org/article/a995144aedb0468e9dc920b2cb37fcef