Clinical presentation, diagnosis and therapy in transcobalamin II deficiency

被引：0
|
作者：
Bodamer, O.
Nexo, E.
Minkov, M.
Fowler, B.
Ratschmann, R.
机构：
[1] Univ Vienna, Childrens Hosp, Vienna, Austria
[2] Aarhus Univ Hosp, DK-8000 Aarhus, Denmark
[3] St Anna Childrens Hosp, Vienna, Austria
[4] Univ Basel, Childrens Hosp, Basel, Switzerland
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2006年 / 29卷
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：
引用
收藏
页码：79 / 79
页数：1
相关论文
共 50 条
  • [21] Clinical presentation and diagnosis: Growth hormone deficiency in adults
    Owens, G
    Balfour, D
    Biller, BM
    Cohen, J
    Jacobs, M
    Lease, M
    Ratnesar, R
    Schaecher, KL
    Wilcox, DE
    AMERICAN JOURNAL OF MANAGED CARE, 2004, 10 (13): : S424 - S430
  • [22] TRANSCOBALAMIN II DEFICIENCY IN TWO CASES WITH A NOVEL MUTATION
    Unal, S.
    Ozgul, R. K.
    Dursun, A.
    Yetgin, S.
    Coskun, T.
    Rupar, T.
    Cetin, M.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S160 - S160
  • [23] HUMORAL IMMUNODEFICIENCY ASSOCIATED WITH TRANSCOBALAMIN-II DEFICIENCY
    SABBAH, A
    BONNEAU, JC
    PRESSE MEDICALE, 1983, 12 (41): : 2629 - 2630
  • [24] Retinal degeneration associated with congenital Transcobalamin II deficiency
    Souied, EH
    Benhamou, N
    Sterkers, M
    Oubraham, H
    Coscas, G
    Soubrane, G
    Zittoun, J
    Echenne, B
    Rothenberg, S
    ARCHIVES OF OPHTHALMOLOGY, 2001, 119 (07) : 1076 - 1077
  • [25] NONSENSE MUTATIONS IN HUMAN TRANSCOBALAMIN-II DEFICIENCY
    LI, N
    ROSENBLATT, DS
    SEETHARAM, B
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1994, 204 (03) : 1111 - 1118
  • [26] Novel Mutation in an Indian Patient with Transcobalamin II Deficiency
    Sandip Bartakke
    Avinash Saindane
    Vardhaman Udgirkar
    S. Shrividya
    Gandham SriLakshmi Bhavani
    Katta M. Girisha
    The Indian Journal of Pediatrics, 2015, 82 : 1073 - 1074
  • [27] CYTOGENETIC FINDINGS OF A CHILD WITH TRANSCOBALAMIN-II DEFICIENCY
    VANCE, GH
    MONCINO, M
    HEEREMA, NA
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (06): : 615 - 619
  • [28] Transcobalamin II Deficiency in Four Cases with Novel Mutations
    Unal, Sule
    Rupar, Tony
    Yetgin, Sevgi
    Yarali, Nese
    Dursun, Ali
    Gursel, Turkiz
    Cetin, Mualla
    TURKISH JOURNAL OF HEMATOLOGY, 2015, 32 (04) : 317 - 322
  • [29] TRANSCOBALAMIN-II DEFICIENCY - BIOCHEMICAL AND CLINICAL ASPECTS OF A FUNCTIONAL DEFECT OF A TC-VARIANT
    BARTMANN, P
    KOHNE, E
    KLEIHAUER, E
    FRATERSCHROTER, M
    BLUT, 1984, 49 (03): : 228 - 228
  • [30] BIOLOGICAL AND CLINICAL SIGNIFICANCE OF TRANSCOBALAMIN-II
    RACHMILEWITZ, M
    RACHMILEWITZ, B
    HAREFUAH, 1978, 94 (3-4) : 105 - 106
12345