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
  • [41] Muscular carnitine palmitoyltransferase II deficiency in infancy
    Hurvitz, H
    Klar, A
    Korn-Lubetzki, I
    Wanders, RJA
    Elpeleg, ON
    PEDIATRIC NEUROLOGY, 2000, 22 (02) : 148 - 150
  • [42] Antenatal presentation of carnitine palmitoyltransferase II deficiency
    Elpeleg, ON
    Hammerman, C
    Saada, A
    Shaag, A
    Golzand, E
    Hochner-Celnikier, D
    Berger, I
    Nadjari, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 102 (02): : 183 - 187
  • [43] Molecular characterization of carnitine palmitoyltransferase 1 deficiency in a Canadian Hutterite family.
    Abadi, N
    Thuillier, L
    Prasad, C
    Dilling, L
    Demaugre, F
    Prip-Buus, C
    Belbachir, A
    Brivet, M
    Kadhom, N
    Bonnefont, JP
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A230 - A230
  • [44] Pharmacological rescue of mutant OCTN2 carnitine transporters in primary carnitine deficiency.
    di San Filippo, CA
    Longo, N
    MOLECULAR GENETICS AND METABOLISM, 2005, 84 (03) : 202 - 202
  • [45] Features of carnitine palmitoyltransferase type I deficiency
    Olpin, SE
    Allen, J
    Bonham, JR
    Clark, S
    Clayton, PT
    Calvin, J
    Downing, M
    Ives, K
    Jones, S
    Manning, NJ
    Pollitt, RJ
    Standing, SJ
    Tanner, MS
    JOURNAL OF INHERITED METABOLIC DISEASE, 2001, 24 (01) : 35 - 42
  • [46] GENETIC ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY
    Yasuno, Tetsuhiko
    Kaneoka, Hidetoshi
    Moriguchi, Ayaka
    Ishimura, Atsunori
    Miyahara, Yoshito
    Abe, Yasuhiro
    Saito, Takao
    NEPHROLOGY, 2005, 10 : A9 - A10
  • [47] NEONATAL CARNITINE PALMITOYLTRANSFERASE-2 DEFICIENCY - A CASE PRESENTING WITH MYOPATHY
    LAND, JM
    MISTRY, S
    SQUIER, M
    HOPE, P
    GHADIMINEJAD, I
    ORFORD, M
    SAGGERSON, D
    NEUROMUSCULAR DISORDERS, 1995, 5 (02) : 129 - 137
  • [48] The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies
    Hargreaves, IP
    Heales, SJR
    Olpin, SE
    Morgan-Hughes, JA
    Land, JM
    JOURNAL OF INHERITED METABOLIC DISEASE, 2000, 23 (04) : 352 - 354
  • [49] Rhabdomyolysis associated with carnitine palmitoyltransferase II deficiency:: current developments in pathophysiology, diagnosis and therapy
    Imoberdorf, R
    Krähenbühl, S
    Krapf, R
    SCHWEIZERISCHE MEDIZINISCHE WOCHENSCHRIFT, 1998, 128 (25) : 1024 - 1029
  • [50] Mutation analysis of carnitine palmitoyl transferase deficiency.
    Taggart, RT
    Vladutiu, GD
    Smail, D
    FASEB JOURNAL, 1998, 12 (08) : A1376 - A1376
12345