Zobrazeno 1 - 10 of 76 pro vyhledávání: '"Congenital factor VII deficiency"'
1
Akademický článek
Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand
Autor: Ampaiwan Chuansumrit, Surapan Parapakpenjune, Rungrote Natesirinilkul, Patcharee Komvilaisak, Werasak Sasanakul, Nongnuch Sirachainan, Anchalee Aramthienthamrong, Chorthip Wattanasutthipong, Kittima Kanchanakumhan, Kunrada Inthawong, Montana Chantaraniyom, Naonpan Pongpaothai, Nattaporntira Phalakornkul, Nisakorn Khumchan, Pacharapan Surapolchai, Panjarat Sowittayasakul, Somporn Wangruangsathit
Publikováno v: Pediatric Hematology Oncology Journal, Vol 7, Iss 4, Pp 130-135 (2022)
Objective: The phenotypic and genotypic analysis of patients with congenital factor VII deficiency were retrospectively conducted. Methods: The study included 26 patients defined as severe (n = 25) and moderate (n = 1) degree by FVII 3% did not exhib
Externí odkaz: https://doaj.org/article/cdadc6bb0b204cb8982be3f95df55ccb
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2
Akademický článek
Spontaneous subgaleal haemorrhage in a newborn: A rare presentation of congenital factor VII deficiency due to homogenous missense mutation of factor VII gene
Autor: Ajoy Kumar Garg, Siva Chaitanya, S.K. Patnaik, Vivek Kumar
Publikováno v: Pediatric Hematology Oncology Journal, Vol 7, Iss 4, Pp 165-168 (2022)
Background: Subgaleal haemorrhage (SGH) is an accumulation of blood between the aponeurosis and the periosteum following rupture of emissary veins. SGH is not uncommon in newborn with traumatic or instrumental delivery. However, spontaneous SGH in th
Externí odkaz: https://doaj.org/article/2f4e7ead216349bd917187203c0f61f9
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3
Akademický článek
Dental extraction in congenital factor Vll deficiency with inhibitor – a case report
Autor: Nayar Geeta, Pillai Vijayakumar Narayana, Mathew Sheena, Menon Gokul Das
Publikováno v: The Journal of Haemophilia Practice, Vol 8, Iss 1, Pp 52-55 (2021)
Hereditary factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance, and FVII deficiency with an inhibitor is extremely rare. There is sparse information in the literature on the management of tooth extraction in
Externí odkaz: https://doaj.org/article/bdec1dbd16594a68baf6a5a7e4f020c4
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4
Akademický článek
Thrombotic events with recombinant activated factor VII (rFVIIa) in approved indications are rare and associated with older age, cardiovascular disease, and concomitant use of activated prothrombin complex concentrates (aPCC)
Autor: Rajpurkar M, Croteau SE, Boggio L, Cooper DL
Publikováno v: Journal of Blood Medicine, Vol Volume 10, Pp 335-340 (2019)
Madhvi Rajpurkar,1 Stacy E Croteau,2 Lisa Boggio,3 David L Cooper4 1Carman and Ann Adams Department of Pediatrics, Children’s Hospital of Michigan/Wayne State University, Detroit, MI, USA; 2Department of Pediatrics, Boston Children’s Hospital/Har
Externí odkaz: https://doaj.org/article/8785b058d939485a80b3d7b9c8e66afe
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5
A Case of Intravascular papillary endothelial hyperplasia Resection in a Patient with Congenital Factor VII Deficiency
Publikováno v: 岐阜歯科学会雑誌 = The Journal of Gifu Dental Society. 48(3):153-158
先天性第Ⅶ因子欠乏症は50万人に1人の頻度で発症する常染色体劣性遺伝形式を呈する稀な先天性凝固障害症の一つである。病態は外因系凝固異常を認め、内因系凝固異常は正常である。
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::b7f3175bf638e3bba557b1a187f3350a
http://id.nii.ac.jp/1128/00013768/
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6
Identification of two novel mutations in three children with congenital factor VII deficiency
Autor: Lauriane Nikuze, Zhengjing Lu, Manlv Wei, Kairong Liang, Fuyong Zhang, Hongying Wei
Publikováno v: Blood Coagulation & Fibrinolysis
Congenital factor VII deficiency (FVIID) is a rare F7 gene mutation causing bleeding disorder inherited in an autosomal recessive manner. In this study, we aimed to identify genetic defects and analyze their relationships with phenotype in three Chin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::676123c1db52f8d2adc9652112b4f3aa
https://doi.org/10.1097/mbc.0000000000001022
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7
Akademický článek
A case of intracranial hemorrhage in a neonate with congenital factor VII deficiency
Autor: Won Seok Lee, Young Sil Park
Publikováno v: Korean Journal of Pediatrics, Vol 53, Iss 10, Pp 913-916 (2010)
Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder. Bleeding manifestations and clinical findings vary widely, ranging from asymptomatic subjects to patients with hemorrhages that may cause significant handicaps. Treatme
Externí odkaz: https://doaj.org/article/217c0affbc7347bc9cb94b22981377ee
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8
Akademický článek
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9
Akademický článek
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10
Análise do espectro mutacional do gene F7 e implicações fenotípicas
Autor: Rocha, Isabella da
Congenital factor VII deficiency (FVIID) is the most frequent of the rare autosomal recessive bleeding disorders, comprising a wide molecular spectrum that correlates with plasma FVII levels and sometimes a bleeding phenotype. Establishing clinical s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2292::6f4317660b3cbe8282ad182b52d8b018
http://hdl.handle.net/10773/33594
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