Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature

被引：0
|
作者：
Zahra Beyzaei
Fatih Ezgu
Bita Geramizadeh
Alireza Alborzi
Alireza Shojazadeh
机构：
[1] Shiraz University of Medical Sciences,Shiraz Transplant Research Center (STRC)
[2] Gazi University,Department of Pediatric Metabolism and Genetic, Faculty of Medicine
[3] Shiraz University of Medical Sciences,Department of Pathology
[4] Shiraz University of Medical Sciences,Student Research Committee
来源：
BMC Medical Genomics | / 14卷
关键词：
syndrome; Cirrhosis; Wolff–Parkinson–White syndrome; Targeted gene sequencing;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 31 条
  • [21] Diabetes mellitus and chronic liver diseases. Literature review (part 2): treatment features
    Kalmykova, Z. A.
    Kononenko, I., V
    Mayorov, A. Yu
    TERAPEVTICHESKII ARKHIV, 2019, 91 (12) : 115 - 121
  • [22] Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature
    Zahra Beyzaei
    Fatih Ezgu
    Bita Geramizadeh
    Alireza Alborzi
    Alireza Shojazadeh
    BMC Pediatrics, 21
  • [23] Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature
    Beyzaei, Zahra
    Ezgu, Fatih
    Geramizadeh, Bita
    Alborzi, Alireza
    Shojazadeh, Alireza
    BMC PEDIATRICS, 2021, 21 (01)
  • [24] Aeromonas veronii cellulitis, bacteremia, and sepsis in a patient with liver cirrhosis and end-stage renal disease following a minor abrasion with exposure to pond water: A case report and literature review
    Stanbaugh, Charlotte L.
    Abter, Elfatih I.
    Tompkins, Amorena L.
    IDCASES, 2022, 30
  • [25] PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature
    Li, Chunyun
    Huang, Lihua
    Tian, Lang
    Chen, Jia
    Li, Shentang
    Yang, Zuocheng
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2018, 31 (03) : 331 - 338
  • [26] Severe acute myopathy following SARS-CoV-2 infection: a case report and review of recent literature
    Islam, Badrul
    Ahmed, Mohiuddin
    Islam, Zhahirul
    Begum, S. M.
    SKELETAL MUSCLE, 2021, 11 (01)
  • [27] A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease
    Philips, Cyriac Abby
    Agarwal, Meenal
    Rajesh, Sasidharan
    Ahamed, Rizwan
    Augustine, Philip
    INDIAN JOURNAL OF GASTROENTEROLOGY, 2021, 40 (01) : 72 - 76
  • [28] A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease
    Cyriac Abby Philips
    Meenal Agarwal
    Sasidharan Rajesh
    Rizwan Ahamed
    Philip Augustine
    Indian Journal of Gastroenterology, 2021, 40 : 72 - 76
  • [29] Hepatopulmonary syndrome secondary to metabolic associated fatty liver disease in childhood - novel treatment with growth hormone replacement therapy: a case report and systematic review of literature
    Choe, Yunsoo
    Lee, Yun Jeong
    Lee, Young Ah
    Ko, Jae Sung
    Shin, Choong Ho
    FRONTIERS IN ENDOCRINOLOGY, 2024, 15
  • [30] A novel variant of the 13C-methacetin liver function breath test that eliminates the confounding effect of individual differences in systemic CO2 kinetics
    Holzhuetter, Hermann-Georg
    Wuensch, Tilo
    Gajowski, Robert
    Berndt, Nikolaus
    Bulik, Sascha
    Meierhofer, David
    Stockmann, Martin
    ARCHIVES OF TOXICOLOGY, 2020, 94 (02) : 401 - 415
1234