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
  • [1] Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia)
    Krasnewich, Donna
    O'Brien, Kevin
    Sparks, Susan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2007, 145C (03) : 302 - 306
  • [2] Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)
    M. Casado
    M. M. O’Callaghan
    R. Montero
    C. Pérez-Cerda
    B. Pérez
    P. Briones
    E. Quintana
    J. Muchart
    A. Aracil
    M. Pineda
    R. Artuch
    The Cerebellum, 2012, 11 : 557 - 563
  • [3] Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)
    Casado, M.
    O'Callaghan, M. M.
    Montero, R.
    Perez-Cerda, C.
    Perez, B.
    Briones, P.
    Quintana, E.
    Muchart, J.
    Aracil, A.
    Pineda, M.
    Artuch, R.
    CEREBELLUM, 2012, 11 (02): : 557 - 563
  • [4] Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
    Matthijs, G
    Schollen, E
    Bjursell, C
    Erlandson, A
    Freeze, H
    Imtiaz, F
    Kjaergaard, S
    Martinsson, T
    Schwartz, M
    Seta, N
    Vuillaumier-Barrot, S
    Westphal, V
    Winchester, B
    HUMAN MUTATION, 2000, 16 (05) : 386 - 394
  • [5] Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
    Romano, S.
    Bajolle, F.
    Valayannopoulos, V.
    Lyonnet, S.
    Colomb, V.
    de Barace, C.
    Vouhe, P.
    Pouard, P.
    Vuillaumier-Barrot, S.
    Dupre, T.
    de Keyzer, Y.
    Sidi, D.
    Seta, N.
    Bonnet, D.
    de Lonlay, P.
    JOURNAL OF MEDICAL GENETICS, 2009, 46 (04) : 287 - 288
  • [6] Biochemical and molecular analysis of a patient with Congenital Disorders of Glycosylation type Ia.
    Wood, T
    Flannery, D
    Kottra, J
    Longshore, J
    Taylor, H
    GLYCOBIOLOGY, 2001, 11 (10) : 906 - 906
  • [7] Congenital disorders of glycosylation type Ia and Ib -: Genetic, biochemical and clinical studies
    Kjærgaard, S
    DANISH MEDICAL BULLETIN, 2004, 51 (04) : 350 - 363
  • [8] MILD CLINICAL AND BIOCHEMICAL PHENOTYPES IN 2 PATIENTS WITH CDG-IA
    Casado, M.
    Gort, L.
    Montero, R.
    Quintana, E.
    Coll, M. J.
    Perez-Cerda, C.
    Perez, B.
    Pineda, M.
    Briones, P.
    Artuch, R.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S74 - S74
  • [9] Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion
    Schollen, E
    Kjaergaard, S
    Martinsson, T
    Vuillaumier-Barrot, S
    Dunoe, M
    Keldermans, L
    Seta, N
    Matthijs, G
    JOURNAL OF MEDICAL GENETICS, 2004, 41 (11) : 877 - 880
  • [10] Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
    Briones, P
    Vilaseca, MA
    Schollen, E
    Ferrer, I
    Maties, M
    Busquets, C
    Artuch, R
    Gort, L
    Marco, M
    van Schaftingen, E
    Matthijs, G
    Jaeken, J
    Chabás, A
    JOURNAL OF INHERITED METABOLIC DISEASE, 2002, 25 (08) : 635 - 646
12345