Carbohydrate-deficient glycoprotein syndrome type I: Determination of the oligosaccharide structure of newly synthesized glycoproteins by analysis of calnexin binding

被引:3
|
作者
Marquardt, T
Ullrich, K
Niehues, R
Koch, HG
Harms, E
机构
关键词
D O I
10.1007/BF01799441
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:246 / 250
页数:5
相关论文
共 50 条
  • [21] Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I
    Pavone, L
    Fiumara, A
    Barone, R
    Rizzo, R
    Buttitta, P
    Dobyns, WB
    Jaeken, J
    JOURNAL OF NEUROLOGY, 1996, 243 (10) : 700 - 705
  • [22] Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency
    Mayatepek, E
    Kohlmüller, D
    EUROPEAN JOURNAL OF PEDIATRICS, 1998, 157 (07) : 605 - 606
  • [23] The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)
    Kristiansson, B
    Stibler, H
    Conradi, N
    Eriksson, BO
    Ryd, W
    JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (02) : 112 - 124
  • [24] Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib
    Neele, DM
    Kneepkens, CMF
    Verhoeven, NM
    Jakobs, C
    JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (08) : 936 - A937
  • [25] A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III
    Stibler, H
    Gylje, H
    Uller, A
    NEUROPEDIATRICS, 1999, 30 (02) : 90 - 92
  • [26] Three Biochemical Subtypes in Type I Carbohydrate-Deficient Glycoprotein Syndrome (CDGS). • 614
    Donna Krasnewich
    Isa Bernardini
    Farshid Rouhani
    Mark Brantly
    Margaret Parker
    Erica St. John
    Ellen Sidransky
    William Gahl
    Pediatric Research, 1997, 41 (Suppl 4) : 105 - 105
  • [27] A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I
    Ohkura, T
    Fukushima, K
    Kurisaki, A
    Sagami, H
    Ogura, K
    Ohno, K
    HaraKuge, S
    Yamashita, K
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (11) : 6868 - 6875
  • [28] Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I
    Stibler, H
    Holzbach, U
    Tengborn, L
    Kristiansson, B
    BLOOD COAGULATION & FIBRINOLYSIS, 1996, 7 (02) : 118 - 126
  • [29] CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME IS ASN-N-LINKED OLIGOSACCHARIDE TRANSFER DEFICIENCY
    YAMASHITA, K
    IDEO, H
    OHKURA, T
    FUKUSHIMA, K
    YUASA, I
    OHNO, K
    GLYCOCONJUGATE JOURNAL, 1993, 10 (04) : 262 - 263
  • [30] CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - OPHTHALMIC ASPECTS IN 4 SICILIAN PATIENTS
    FIUMARA, A
    BARONE, R
    BUTTITTA, P
    DIPIETRO, M
    SCUDERI, A
    NIGRO, F
    JAEKEN, J
    BRITISH JOURNAL OF OPHTHALMOLOGY, 1994, 78 (11) : 845 - 846