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
来源：
MOLECULAR GENETICS AND METABOLISM | 2009年 / 98卷 / 1-2期
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
  • [21] Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency
    Jing, Jiayu
    Zhang, Cui
    Du, Sihao
    Tan, Xiaohui
    Yue, Xia
    Qiao, Dongfang
    CARDIOVASCULAR PATHOLOGY, 2024, 70
  • [22] INHIBITION OF MITOCHONDRIAL CARNITINE-ACYLCARNITINE TRANSLOCASE BY SULFOBETAINES
    PARVIN, R
    PANDE, SV
    FEDERATION PROCEEDINGS, 1980, 39 (06) : 2085 - 2085
  • [23] INHIBITION OF MITOCHONDRIAL CARNITINE-ACYLCARNITINE TRANSLOCASE BY SULFOBETAINES
    PARVIN, R
    GOSWAMI, T
    PANDE, SV
    CANADIAN JOURNAL OF BIOCHEMISTRY, 1980, 58 (10): : 822 - 830
  • [24] Identification of a novel mutation in patient with carnitine-acylcarnitine translocase (CACT) deficiency.
    Ding, JH
    Yang, BZ
    Mallory, JM
    Roe, DS
    Strobel, GD
    Brivet, M
    Roe, CR
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 393 - 393
  • [25] NEONATAL HYPERAMMONEMIA CAUSED BY A DEFECT OF CARNITINE-ACYLCARNITINE TRANSLOCASE
    DEBAULNY, HO
    SLAMA, A
    TOUATI, G
    TURNBULL, DM
    POURFARZAM, M
    BRIVET, M
    JOURNAL OF PEDIATRICS, 1995, 127 (05): : 723 - 728
  • [26] A PUZZLING CASE OF CARNITINE-ACYLCARNITINE TRANSLOCASE (CACT) DEFICIENCY, DIAGNOSED ON NEWBORN SCREENING
    Al-Hertani, W.
    Cordeiro, D.
    Burr, L.
    Olpin, S.
    Raiman, J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S58 - S58
  • [27] Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient
    Galron, D
    Birk, OS
    Kazanovitz, A
    Moses, SW
    Hershkovitz, E
    JOURNAL OF INHERITED METABOLIC DISEASE, 2004, 27 (02) : 267 - 273
  • [28] CARNITINE-ACYLCARNITINE TRANSLOCASE IN ISCHEMIA - EVIDENCE FOR SULFHYDRYL MODIFICATION
    PAULY, DF
    YOON, SB
    MCMILLIN, JB
    AMERICAN JOURNAL OF PHYSIOLOGY, 1987, 253 (06): : H1557 - H1565
  • [29] CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY WITH SEVERE HYPOGLYCEMIA AND ATRIOVENTRICULAR-BLOCK - TRANSLOCASE ASSAY IN PERMEABILIZED FIBROBLASTS
    PANDE, SV
    BRIVET, M
    SLAMA, A
    DEMAUGRE, F
    AUFRANT, C
    SAUDUBRAY, JM
    JOURNAL OF CLINICAL INVESTIGATION, 1993, 91 (03): : 1247 - 1252
  • [30] Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency
    Costa, C
    Costa, JM
    Slama, A
    Boutron, A
    Vequaud, C
    Legrand, A
    Brivet, M
    MOLECULAR GENETICS AND METABOLISM, 2003, 78 (01) : 68 - 73
12345