Absence of specific facial dysmorphy in glycogen storage disease type III

被引:0
|
作者
Labrune, P [1 ]
机构
[1] Hop Antoine Beclere AP HP, Serv Pediat & Consultat Genet, F-92141 Clamart, France
关键词
D O I
10.1097/00019605-200307000-00017
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:213 / 213
页数:1
相关论文
共 50 条
  • [41] CARDIAC INVOLVEMENT IN GLYCOGEN-STORAGE DISEASE TYPE-III
    MOSES, SW
    WANDERMAN, KL
    MYROZ, A
    FRYDMAN, M
    EUROPEAN JOURNAL OF PEDIATRICS, 1989, 148 (08) : 764 - 766
  • [42] Markedly Elevated Serum Transaminases in Glycogen Storage Disease Type III
    Karwowski, Christine
    Galambos, Csaba
    Finegold, David
    Shneider, Benjamin L.
    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2011, 52 (05): : 621 - 623
  • [43] Correction of glycogen storage disease type III with rapamycin in a canine model
    Haiqing Yi
    Elizabeth D. Brooks
    Beth L. Thurberg
    John C. Fyfe
    Priya S. Kishnani
    Baodong Sun
    Journal of Molecular Medicine, 2014, 92 : 641 - 650
  • [44] UTILITY OF A URINARY TETRASACCHARIDE AS A BIOMARKER FOR GLYCOGEN STORAGE DISEASE TYPE III
    Tolun, A. A.
    Boyd, K. F.
    Austin, S. L.
    Vertilus, S. M.
    Case, L. E.
    Wechsler, S. B.
    Millington, D. S.
    Bali, D.
    Young, S. P.
    Kishnani, P. S.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 39 - 39
  • [45] Incidence and severity of hypoglycemia in patients with glycogen storage disease type III
    Overduin, Ruben J.
    Derks, Terry G. J.
    Saavedra, Heather
    Luca, Diana
    Boney, Anne
    Grimm, Andrew
    MOLECULAR GENETICS AND METABOLISM, 2024, 141 (04)
  • [46] Dietary management in glycogen storage disease type III: what is the evidence?
    Derks, Terry G. J.
    Smit, G. Peter A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (03) : 545 - 550
  • [47] Phenylketonuria and glycogen storage disease type III in sibs of one family
    Yilmazer, T
    van Gennip, AH
    Abeling, NGGM
    Özalp, I
    Coskun, T
    Bakker, HD
    TURKISH JOURNAL OF PEDIATRICS, 2002, 44 (01) : 49 - 53
  • [48] GROSS CARDIAC INVOLVEMENT IN GLYCOGEN STORAGE-DISEASE TYPE III
    MILLER, CG
    BROOKS, SEH
    ALLEYNE, GA
    BRITISH HEART JOURNAL, 1972, 34 (08): : 862 - &
  • [49] Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III
    Fukuda, T
    Sugie, H
    Ito, M
    JOURNAL OF INHERITED METABOLIC DISEASE, 2000, 23 (02) : 95 - 106
  • [50] Specific heart muscle disease associated with glycogen storage disease type III: Clinical similarity to the dilated phase of hypertrophic cardiomyopathy
    Akazawa, H
    Kuroda, T
    Kim, S
    Mito, H
    Kojo, T
    Shimada, K
    EUROPEAN HEART JOURNAL, 1997, 18 (03) : 532 - 533