Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy)

被引：4
|
作者：
Applegarth, DA [1 ]
Rolland, MO
Toone, JR
Coulter-Mackie, M
Saura, R
机构：
[1] Univ British Columbia, Dept Pediat, Vancouver, BC V6T 1W5, Canada
[2] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V6T 1W5, Canada
[3] Childrens & Womens Hlth Ctr British Columbia, Biochem Dis Lab, Vancouver, BC V6H 3V4, Canada
[4] Hop Debrousse, Serv Biochim Pediat, F-69322 Lyon 05, France
[5] Hop Pellegrin, Dept Med Genet, F-33076 Bordeaux, France
来源：
PRENATAL DIAGNOSIS | 2002年 / 22卷 / 03期
关键词：
D O I：
10.1002/pd.293
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：266 / 267
页数：2
相关论文
共 50 条
  • [1] Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)
    Korman, SH
    Gutman, A
    [J]. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2002, 44 (10): : 712 - 720
  • [2] PRENATAL-DIAGNOSIS OF NON-KETOTIC HYPERGLYCINEMIA
    GARCIACASTRO, JM
    ISALESFORSYTHE, CM
    LEVY, HL
    SHIH, VE
    LAOVELEZ, CR
    GONZALEZRIOS, MD
    DETORRES, LCR
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1982, 306 (02): : 79 - 81
  • [3] PRENATAL-DIAGNOSIS OF NON-KETOTIC HYPERGLYCINEMIA
    FOX, JS
    CARSON, NAJ
    LEWIS, MHR
    [J]. BIOCHEMICAL SOCIETY TRANSACTIONS, 1984, 12 (03) : 458 - 458
  • [4] PRENATAL-DIAGNOSIS OF NON-KETOTIC HYPERGLYCINEMIA
    APPLEGARTH, DA
    LEVY, H
    SHIH, V
    MCGILLIVRAY, B
    WONG, J
    TOONE, JR
    KIRBY, LT
    [J]. CLINICAL AND INVESTIGATIVE MEDICINE-MEDECINE CLINIQUE ET EXPERIMENTALE, 1985, 8 (03): : A172 - A172
  • [5] PROBLEMS OF PRENATAL-DIAGNOSIS OF NON-KETOTIC HYPERGLYCINEMIA
    VONWENDT, L
    SIMILA, S
    RUOKONEN, A
    HARTIKAINENSORRI, AL
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1983, 6 (03) : 112 - 113
  • [6] ALTERED TOXICITY OF GLYCINE IN NON-KETOTIC HYPERGLYCINEMIA
    GROOT, CJD
    HOMMES, FA
    TOUWEN, BCL
    [J]. HUMAN HEREDITY, 1977, 27 (03) : 178 - 178
  • [7] GLYCINE SERINE RATIOS IN AMNIOTIC-FLUID FOR THE PRENATAL-DIAGNOSIS OF NON-KETOTIC HYPERGLYCINEMIA
    MESAVAGE, C
    NANCE, CS
    FLANNERY, DB
    WEINER, DL
    SUCHY, SF
    WOLF, B
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1982, 34 (06) : A57 - A57
  • [8] Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia
    Paupe, A
    Bidat, L
    Sonigo, P
    Lenclen, R
    Molho, M
    Ville, Y
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2002, 20 (06) : 616 - 619
  • [9] MOLECULAR LESION OF NON-KETOTIC HYPERGLYCINEMIA
    TADA, K
    HAYASAKA, K
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 : 143 - 144
  • [10] Non-Ketotic Hyperglycinemia
    San, Murat
    Cagan, Eren
    Isikay, Sedat
    San, Emine Sibel
    Cagan, Havva Hasret
    [J]. CUKUROVA MEDICAL JOURNAL, 2015, 40 : 117 - 121
12345