Zobrazeno 1 - 10
of 385
pro vyhledávání: '"Compound heterozygote"'
Autor:
Salih OAMM, Erwa NHH, Abdelmoneim AH, Fadl HAO, Glanzmann B, Osman MAB, Osman MAH, Gasim TME, Mustafa A
Publikováno v:
The Application of Clinical Genetics, Vol Volume 17, Pp 133-141 (2024)
Omaima Abdel Majeed Mohamed Salih,1,2 Nahla Hashim Hassan Erwa,3 Abdelrahman Hamza Abdelmoneim,4 Hiba Awadelkareem Osman Fadl,5,6 Brigitte Glanzmann,7,8 Manasik Abdalla Babiker Osman,9 Monzir Ahmed Hassan Osman,10 Thuraya Mohamed Elshiekh Gasim,10 Al
Externí odkaz:
https://doaj.org/article/2c30e69ae63d494bb6ff10156d6f351d
Autor:
Yuepeng Hu, Jian-Min Chen, Han Zuo, Na Pu, Guofu Zhang, Yichen Duan, Gang Li, Zhihui Tong, Weiqin Li, Baiqiang Li, Qi Yang
Publikováno v:
Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-10 (2024)
Abstract Background Lipoprotein lipase (LPL) plays a crucial role in triglyceride hydrolysis. Rare biallelic variants in the LPL gene leading to complete or near-complete loss of function cause autosomal recessive familial chylomicronemia syndrome. H
Externí odkaz:
https://doaj.org/article/7eacbf00ac0f4b20924505722c98d8de
Publikováno v:
BMC Nephrology, Vol 23, Iss 1, Pp 1-6 (2022)
Abstract Background Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disease with a high mortality rate caused by VPS33B or VIPAS39 mutations. ARC syndrome typically presents with arthrogryposis, renal tubular leak and neonatal c
Externí odkaz:
https://doaj.org/article/705bce006d6e49e1bd94ca787009a082
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Recently, UNC45 myosin chaperone A (UNC45A) deficiency was identified as a cause of osteo-oto-hepato-enteric syndrome (O2HE) characterized by congenital diarrhea, neonatal cholestasis, deafness, and bone fragility. To date, only a few O2H
Externí odkaz:
https://doaj.org/article/8d55870d65e5416791f3e28d43135658
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: CODAS syndrome (MIM 600373) is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is rare in the world and no cases have been reported in Chinese population s
Externí odkaz:
https://doaj.org/article/12bd25d3051846568377157240eaf4ec
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Jessica S. Fortin, Chady H. Hakim, Scott Korte, N. Nora Yang, Scott D. Fitzgerald, Gayle C. Johnson, Bruce F. Smith, Dongsheng Duan
Publikováno v:
Veterinary Medicine and Science, Vol 7, Iss 3, Pp 654-659 (2021)
Abstract The University of Missouri (MU) has established a colony of dystrophin‐deficient dogs with a mixed breed background to mirror the variable pathologic effects of dystrophinopathies between persons of a given kindred to further the understan
Externí odkaz:
https://doaj.org/article/351578939fd147a5a0fbbf1e34e6eb7d
Publikováno v:
International Journal of General Medicine, Vol Volume 14, Pp 797-803 (2021)
Hongling Fu,1,2 Qiu Wang,2,3 Hanmin Liu1,2 1Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, People’s Republic of China; 2Key Laboratory of Birth Defect and Related Diseases of Women and Childre
Externí odkaz:
https://doaj.org/article/c73043b69d9345b3b419bdfa5be8f4eb
Publikováno v:
Indian Pediatrics Case Reports, Vol 1, Iss 4, Pp 240-243 (2021)
Background: Sudden unexplained postnatal collapse (SUPC) is a condition in which a newborn born at term or near term, and an Apgar score >8 at 5 min and deemed healthy, presents with sudden unexpected cardiorespiratory collapse within the 1st week of
Externí odkaz:
https://doaj.org/article/b2b5e7b2af43449087813e016e252ad8
Autor:
Shiyu Zhang, Jiaxing Song, Yuyan Yang, Huilei Miao, Lu Yang, Yuehua Liu, Xue Zhang, Yaping Liu, Tao Wang
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-8 (2021)
Abstract Background Type I interferonopathies are a group of rare autoimmune diseases characterised by excessive activation of type I interferon that leads to disturbances in immune function. Three prime repair exonuclease 1 (TREX1) is an important e
Externí odkaz:
https://doaj.org/article/cc5cd8cdd6f4424c86122fb35818ebf9