CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY AND RECURRENT PANCREATITIS

被引:0
|
作者
Saenz, M. S. [1 ]
Van Hove, J. L. [1 ]
Gallagher, R. [1 ]
Burns, C. [1 ]
Thomas, J. [1 ]
机构
[1] Univ Colorado Denver, Childrens Hosp, Aurora, CO USA
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
319
引用
收藏
页码:53 / 54
页数:2
相关论文
共 50 条
  • [41] Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency
    Iacobazzi, V
    Invernizzi, F
    Baratta, S
    Pons, R
    Chung, W
    Garavaglia, B
    Dionisi-Vici, C
    Ribes, A
    Parini, R
    Huertas, MD
    Roldan, S
    Lauria, G
    Palmieri, F
    Taroni, F
    HUMAN MUTATION, 2004, 24 (04) : 312 - 320
  • [42] Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response
    Vatanavicharn, Nithiwat
    Yamada, Kenji
    Aoyama, Yuka
    Fukao, Toshiyuki
    Densupsoontorn, Narumon
    Jirapinyo, Pipop
    Sathienkijkanchai, Achara
    Yamaguchi, Seiji
    Wasant, Pornswan
    BRAIN & DEVELOPMENT, 2015, 37 (07): : 698 - 703
  • [43] Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals
    Fukushima, Takao
    Kaneoka, Hidetoshi
    Yasuno, Tetsuhiko
    Sasaguri, Yukari
    Tokuyasu, Tomoko
    Tokoro, Kuniko
    Fukao, Toshiyuki
    Saito, Takao
    JOURNAL OF HUMAN GENETICS, 2013, 58 (12) : 788 - 793
  • [44] Carnitine-acylcarnitine translocase deficiency. Clinical course of 3 Saudi children with a severe phenotype Reply
    Al-Sannaa, Nouriya A.
    SAUDI MEDICAL JOURNAL, 2011, 32 (02) : 203 - 203
  • [45] Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency
    Geven, W. B.
    Niezen-Koning, K. E.
    Timmer, A.
    van Loon, A. J.
    Wanders, R. J. A.
    van Spronsen, F. J.
    BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2007, 114 (08) : 1028 - 1030
  • [46] CARNITINE-ACYLCARNITINE TRANSLOCASE OF RAT-HEART MITOCHONDRIA-COMPETITION FOR CARNITINE UPTAKE BY CARNITINE ESTERS
    IDELLWENGER, JA
    GROTYOHANN, LW
    FEDERATION PROCEEDINGS, 1980, 39 (06) : 1631 - 1631
  • [47] New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
    Ryder, Bryony
    Inbar-Feigenberg, Michal
    Glamuzina, Emma
    Halligan, Rebecca
    Vara, Roshni
    Elliot, Aoife
    Coman, David
    Minto, Tahlee
    Lewis, Katherine
    Schiff, Manuel
    Vijay, Suresh
    Akroyd, Rhonda
    Thompson, Sue
    MacDonald, Anita
    Woodward, Abigail J. M.
    Gribben, Joanne E. L.
    Grunewald, Stephanie
    Belaramani, Kiran
    Hall, Madeleine
    Haak, Natalie
    Devanapalli, Beena
    Tolun, Adviye Ayper
    Wilson, Callum
    Bhattacharya, Kaustuv
    JOURNAL OF INHERITED METABOLIC DISEASE, 2021, 44 (04) : 903 - 915
  • [48] Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity
    Shi, Congcong
    Ao, Zhenzhen
    Liu, Bingqing
    Xiao, Xin
    Gu, Xia
    Yang, Qiuping
    Hao, Hu
    Cai, Yao
    Li, Sitao
    TRANSLATIONAL PEDIATRICS, 2023, 12 (05) : 871 - 881
  • [49] Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia
    Habib, Anasufiza
    Azize, Nor Azimah Abdul
    Abd Rahman, Salina
    Yakob, Yusnita
    Suberamaniam, Vengadeshwaran
    Nazri, Muhammad Irfan Bukhari Ahmad
    Sani, Huzaimah Abdullah
    Ch'ng, Gaik-Siew
    Yin, Leong Huey
    Olpin, Simon
    Lock-Hock, Ngu
    CLINICAL BIOCHEMISTRY, 2021, 98 : 48 - 53
  • [50] Homozygous slc25a20 zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis
    Hishida, Ryuichi
    Ishiguro, Kohei
    Yamanaka, Tomoyuki
    Toyokuni, Shinya
    Matsui, Hideaki
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2024, 41