Coexistence of mutations of Gilbert’s syndrome and Crigler-Najjar syndrome in an infant with unconjugated hyperbilirubinemia—a case report

被引:0
|
作者
Ramya Srinivasa Rangan
Shagun Shah
C. T. Deshmukh
机构
[1] Seth GS Medical College and KEM Hospital,Department of Pediatrics
[2] Vinayaka Mission’s Kirupananda Variyar Medical College and Hospital,Department of Pediatrics
[3] Vinayaka Mission’s Research Foundation (Deemed to be University),Pediatric Hemat Oncology and Bone Marrow Transplant
[4] Royal Manchester Children’s Hospital,Department of Pediatrics
[5] Topiwala National Medical College and BYL Nair Charitable Hospital,undefined
关键词
Crigler-Najjar syndrome type II; Gilbert’s syndrome; Intermediate hyperbilirubinemia; Double mutation; Genetic counseling;
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 50 条
  • [41] CRIGLER-NAJJAR SYNDROME - TREATMENT AT HOME WITH PHOTOTHERAPY
    OREILLY, C
    DIXON, R
    SCOTTISH MEDICAL JOURNAL, 1988, 33 (05) : 335 - 336
  • [42] What's next in gene therapy for Crigler-Najjar syndrome?
    Aronson, Sem J.
    Ronzitti, Giuseppe
    Bosma, Piter J.
    EXPERT OPINION ON BIOLOGICAL THERAPY, 2023, 23 (02) : 119 - 121
  • [43] Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report
    Fernandes, Samuel Raimundo
    Moura, Carlos Miguel
    Rodrigues, Beatriz
    Correia, Luis Araujo
    Cortez-Pinto, Helena
    Velosa, Jose
    BMC GASTROENTEROLOGY, 2016, 16
  • [44] Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report
    Samuel Raimundo Fernandes
    Carlos Miguel Moura
    Beatriz Rodrigues
    Luís Araújo Correia
    Helena Cortez-Pinto
    José Velosa
    BMC Gastroenterology, 16
  • [45] Crigler-Najjar syndrome. Report of one case with a long term follow up
    Besa, Santiago
    Calvo, Carlos I.
    Harris, Paul R.
    REVISTA MEDICA DE CHILE, 2014, 142 (01) : 109 - 113
  • [46] Disease burden and management of Crigler-Najjar syndrome: Report of a world registry
    Aronson, Sem J.
    Junge, Norman
    Trabelsi, Mediha
    Kelmemi, Wided
    Hubert, Aurelie
    Brigatti, Karlla W.
    Fox, Michael D.
    de Knegt, Robert J.
    Escher, Johanna C.
    Ginocchio, Virginia M.
    Iorio, Raffaele
    Zhu, Yan
    Ozcay, Figen
    Rahim, Fakher
    El-Shabrawi, Mortada H. F.
    Shteyer, Eyal
    Di Giorgio, Angelo
    D'Antiga, Lorenzo
    Mingozzi, Federico
    Brunetti-Pierri, Nicola
    Strauss, Kevin A.
    Labrune, Philippe
    Mrad, Ridha
    Baumann, Ulrich
    Beuers, Ulrich
    Bosma, Piter J.
    LIVER INTERNATIONAL, 2022, 42 (07) : 1593 - 1604
  • [47] Complete, long-term correction of hyperbilirubinemia in the Gunn rat model of Crigler-Najjar syndrome
    Toietta, G
    Mane, VP
    Lee, B
    Beaudet, AL
    MOLECULAR THERAPY, 2003, 7 (05) : S456 - S456
  • [48] Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity
    Laura Cozzi
    Federica Nuti
    Irene Degrassi
    Daniela Civeriati
    Giulia Paolella
    Gabriella Nebbia
    Italian Journal of Pediatrics, 48
  • [49] Severe Neonatal Hyperbilirubinemia in Crigler-Najjar Syndrome Model Mice Can Be Reversed With Zinc Protoporphyrin
    Fujiwara, Ryoichi
    Mitsugi, Ryo
    Uemura, Asuka
    Itoh, Tomoo
    Tukey, Robert H.
    HEPATOLOGY COMMUNICATIONS, 2017, 1 (08) : 792 - 802
  • [50] GLUCURONIC ACID CONJUGATION OF STEROIDS IN CRIGLER-NAJJAR SYNDROME
    DRUCKER, WD
    ENGEL, T
    MEISLIN, A
    JIRKU, H
    LEVITZ, M
    DAVID, R
    BULLETIN OF THE NEW YORK ACADEMY OF MEDICINE, 1967, 43 (05) : 401 - &