Congenital disorders of glycosilation type Ia (CDG Ia) in argentine: Clinical, biochemical and molecular findings in two patients

被引：0
|
作者：
Szlago, M.
Massari, M.
Cayssials, A.
Cocceres, L.
Matthijs, G.
Jaeken, J.
机构：
[1] FESEN Lab Neuroquim Dr NA Chamoles, Buenos Aires, DF, Argentina
[2] Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium
[3] Katholieke Univ Leuven, Dept Pediat, Louvain, Belgium
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：161 / 161
页数：1
相关论文
共 50 条
  • [21] Clinical, Biochemical, and Genetic Analysis of Korean Patients with Pseudohypoparathyroidism Type Ia
    Park, Chang-Hun
    Park, Hyung-Doo
    Lee, Soo-Youn
    Kim, Jong-Won
    Sohn, Young Bae
    Park, Sung Won
    Jin, Dong-Kyu
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2010, 40 (03): : 261 - 266
  • [22] CDG Ik: Novel molecular, biochemical, and clinical findings
    Vodopiutz, J.
    Schmidt, W.
    Lehle, L.
    Item, C. B.
    Janecke, A. R.
    Burlina, A.
    Bodamer, O. A.
    EUROPEAN JOURNAL OF PEDIATRICS, 2007, 166 (03) : 290 - 290
  • [23] STRUCTURAL HEART LESIONS IN CONGENITAL DISORDERS OF GLYCOSYLATION TYPE IA
    Tan, E. S.
    Choo, J.
    Tan, T. H.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 130 - 131
  • [24] Congenital disorders of glycosylation type Ia as a cause of mirror syndrome
    D Wurm
    G Löffler
    A Lindinger
    L Gortner
    Journal of Perinatology, 2007, 27 : 802 - 804
  • [25] Congenital disorders of glycosylation type Ia as a cause of mirror syndrome
    Wurm, D.
    Loeffler, G.
    Lindinger, A.
    Gortner, L.
    JOURNAL OF PERINATOLOGY, 2007, 27 (12) : 802 - 804
  • [26] Hypertrophic cardiomyopathy and Hydrops fetalis in maternal mirror syndrome can be associated with congenital disorders of glycosylation (CDG syndrome) type Ia
    Olchvary, J.
    Lindinger, A.
    Limbach, H.-G.
    Wurm, D.
    Marguardt, T.
    Khaliq, H. Abdul
    CLINICAL RESEARCH IN CARDIOLOGY, 2007, 96 (09) : 686 - 686
  • [27] Clitoris hypertrophy and hirsutism in an adult female patient with a congenital disorder of glycosylation (CDG) type IA
    Tsiakas, K.
    Marquardt, T.
    Hammer, E.
    Ullrich, K.
    Santer, R.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 65 - 65
  • [28] A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency
    Westphal, V
    Kjaergaard, S
    Schollen, E
    Martens, K
    Grunewald, S
    Schwartz, M
    Matthijs, G
    Freeze, HH
    HUMAN MOLECULAR GENETICS, 2002, 11 (05) : 599 - 604
  • [29] Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene):: clinical, molecular and autopsy findings
    Wurm, Donald
    Haensgen, Andrea
    Kim, Yoo-Jin
    Lindinger, Angelika
    Baghai, Ali
    Gortner, Ludwig
    EUROPEAN JOURNAL OF PEDIATRICS, 2007, 166 (04) : 377 - 378
  • [30] Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings
    Donald Wurm
    Andrea Hänsgen
    Yoo-Jin Kim
    Angelika Lindinger
    Ali Baghai
    Ludwig Gortner
    European Journal of Pediatrics, 2007, 166 : 377 - 378
12345