Zobrazeno 1 - 10
of 288
pro vyhledávání: '"HLCS"'
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionHolocarboxylase synthetase deficiency (HLCSD) is a rare autosomal recessive genetic disorder caused by mutations in the holocarboxylase synthetase (HLCS) gene, which affects multiple systems. Common clinical manifestations include metabol
Externí odkaz:
https://doaj.org/article/61003b01cec04ba5ac001d8dfa5a474f
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 8, Pp n/a-n/a (2024)
ABSTRACT Introduction Holocarboxylase synthetase deficiency (HLCS deficiency, OMIM #253270) is an exceedingly rare metabolic disorder resulting in multiple carboxylase deficiencies owing to impaired biotin cycle. Clinical manifestations include sever
Externí odkaz:
https://doaj.org/article/4959441a6d4c46a5a75fbc5c95d12ccf
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
The generation of iPSC-derived hepatocyte-like cells (HLCs) is a powerful tool for studying liver diseases, their therapy as well as drug development. iPSC-derived disease models benefit from their diverse origin of patients, enabling the study of di
Externí odkaz:
https://doaj.org/article/37f1b8af35204c5394ffd74cbb512d35
Autor:
Nayak, Amar K. J. R.1, Das, Bipin2
Publikováno v:
Sambalpuri Bastralaya HLCS Limited - Part 1: A Case of an Exclusive Organization of Weavers. 2006, preceding p1-21. 22p. 1 Diagram, 11 Charts.
Autor:
Arnaud Carpentier
Publikováno v:
Viruses, Vol 16, Iss 5, p 716 (2024)
Chronic Hepatitis B and D Virus (HBV and HDV) co-infection is responsible for the most severe form of viral Hepatitis, the Hepatitis Delta. Despite an efficient vaccine against HBV, the HBV/HDV infection remains a global health burden. Notably, no ef
Externí odkaz:
https://doaj.org/article/6a9a4ec48dde4769b7ddbfd730b14a4b
Autor:
Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu, Lianshu Han
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
Abstract Background This study aimed to describe the clinical, biochemical, and molecular characteristics of Chinese patients with holocarboxylase synthetase (HLCS) deficiency, and to investigate the mutation spectrum of HCLS deficiency as well as th
Externí odkaz:
https://doaj.org/article/04e362d98e034408bd2053d08a3eb417
Akademický článek
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Akademický článek
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Autor:
Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. Case present
Externí odkaz:
https://doaj.org/article/58e23da14ac64692bc95f375a6377a0f
Autor:
Barbara Silva, Joana Saraiva Rodrigues, Joana Paiva Miranda, Ana Sofia Almeida, Carla Fernandes, Paula Guedes de Pinho, Fernando Remião
Publikováno v:
Medical Sciences Forum, Vol 14, Iss 1, p 79 (2022)
Liver damage is a common issue associated with synthetic cathinones abuse. Indeed, human stem cell-derived hepatocyte-like cells (HLCs) have been used as alternative in vitro models for hepatotoxicity studies, due to their ability to maintain a stabl
Externí odkaz:
https://doaj.org/article/41f12ffd2dfb4342b8fa417fbb24600c