Molecular prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency.

被引：0
|
作者：
Thuillier, L
Belbachir, H
Royer-Legrain, G
Attie-Bitach, T
Driben, A
Abadi, N
Kamoun, P
Saudubray, JM
Munnich, A
Bonnefont, JP
机构：
[1] Hop Necker Enfants Malad, Genet Biochem Unit, Paris, France
[2] Hop Necker Enfants Malad, Dept Genet, Paris, France
[3] Hop Necker Enfants Malad, Dept Pediat, Paris, France
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
2442
引用
收藏
页码：A431 / A431
页数：1
相关论文
共 50 条
  • [1] Molecular assay for the characterization of hepatic carnitine palmitoyltransferase 1 deficiency.
    Park, JY
    Narayan, S
    Bennett, MJ
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2005, 124 (03) : 455 - 455
  • [2] Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi:: a novel approach
    Vekemans, BC
    Bonnefont, JP
    Aupetit, J
    Royer, G
    Droin, V
    Attié-Bitach, T
    Saudubray, JM
    Thuillier, L
    PRENATAL DIAGNOSIS, 2003, 23 (11) : 884 - 887
  • [3] Pancreatitis and rhabdomyolysis in a patient with carnitine palmitoyltransferase I deficiency.
    Laman, D
    Steffen, R
    Wyllie, R
    Kay, M
    Kaplan, B
    GASTROENTEROLOGY, 2000, 118 (04) : A1148 - A1149
  • [4] Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood
    Kaufmann, P
    ElSchahawi, M
    DiMauro, S
    MOLECULAR AND CELLULAR BIOCHEMISTRY, 1997, 174 (1-2) : 237 - 239
  • [5] Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood
    Petra Kaufmann
    Salvatore DiMauro
    Molecular and Cellular Biochemistry, 1997, 174 : 237 - 239
  • [6] MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE (CPT) DEFICIENCY
    TARONI, F
    VERDERIO, E
    FIORUCCI, S
    FINOCCHIARO, G
    UZIEL, G
    DIDONATO, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 420 - 420
  • [7] CARNITINE PALMITOYLTRANSFERASE DEFICIENCY
    BINDOFF, LA
    SHERRATT, HSA
    SINGH, R
    TURNBULL, DM
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1988, 51 (09): : 1242 - 1243
  • [8] Variable phenotypes associated with a protein truncation mutation in carnitine palmitoyltransferase II deficiency.
    Vladutiu, GD
    Quackenbush, E
    Hainline, BE
    Smail, D
    Bennett, MJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 282 - 282
  • [9] Identification of a novel mutation in patient with carnitine palmitoyltransferase II (CPT II) deficiency.
    Yang, BZ
    Zhang, LF
    Roe, DS
    Roe, CR
    Wiltse, HE
    Ding, JH
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 290 - 290
  • [10] Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
    Ijlst, L
    Mandel, H
    Oostheim, W
    Ruiter, JPN
    Gutman, A
    Wanders, RJA
    JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (03): : 527 - 531
12345