Two clinical forms of glycogen-storage disease type II in two generations of the same family

被引:12
|
作者
Amartino, H [1 ]
Painceira, D [1 ]
Pomponio, RJ [1 ]
Niizawa, G [1 ]
Sabio Paz, V [1 ]
Blanco, M [1 ]
Chamoles, N [1 ]
机构
[1] Neurochem Lab, RA-1425 Buenos Aires, DF, Argentina
关键词
D O I
10.1111/j.1399-0004.2005.00557.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:187 / 188
页数:2
相关论文
共 50 条
  • [21] COMPARATIVE PATHOLOGY OF THE CANINE MODEL OF GLYCOGEN-STORAGE DISEASE TYPE-II (POMPES DISEASE)
    WALVOORT, HC
    DORMANS, JAMA
    VANDENINGH, TSGAM
    JOURNAL OF INHERITED METABOLIC DISEASE, 1985, 8 (01) : 38 - 46
  • [22] GLYCOGEN-STORAGE DISEASE CONFINED TO THE HEART WITH DEFICIENT ACTIVITY OF CARDIAC PHOSPHORYLASE-KINASE - A NEW TYPE OF GLYCOGEN-STORAGE DISEASE
    EISHI, Y
    TAKEMURA, T
    SONE, R
    YAMAMURA, H
    NARISAWA, K
    ICHINOHASAMA, R
    TANAKA, M
    HATAKEYAMA, S
    HUMAN PATHOLOGY, 1985, 16 (02) : 193 - 197
  • [23] HETEROZYGOTE DETECTION IN A FAMILY OF LAPLAND DOGS WITH A RECESSIVELY INHERITED METABOLIC DISEASE - CANINE GLYCOGEN-STORAGE DISEASE TYPE-II
    WALVOORT, HC
    KOSTER, JF
    REUSER, AJJ
    RESEARCH IN VETERINARY SCIENCE, 1985, 38 (02) : 174 - 178
  • [24] CANINE GLYCOGEN-STORAGE DISEASE TYPE-II - A CLINICAL-STUDY OF 4 AFFECTED LAPLAND DOGS
    WALVOORT, HC
    VANNES, JJ
    STOKHOF, AA
    WOLVEKAMP, WTC
    JOURNAL OF THE AMERICAN ANIMAL HOSPITAL ASSOCIATION, 1984, 20 (02) : 279 - 286
  • [25] USE OF LEUKOCYTES AS AN AID IN DIAGNOSIS OF GLYCOGEN-STORAGE DISEASE TYPE-II (POMPES DISEASE)
    KOSTER, JF
    SLEE, RG
    HULSMANN, WC
    CLINICA CHIMICA ACTA, 1974, 51 (03) : 319 - 325
  • [26] FINE STRUCTURE OF GLYCOGEN FROM TYPE-IV GLYCOGEN-STORAGE DISEASE
    MERCIER, C
    WHELAN, WJ
    EUROPEAN JOURNAL OF BIOCHEMISTRY, 1970, 16 (03): : 579 - &
  • [27] REGIONAL ENTERITIS AND GLYCOGEN-STORAGE DISEASE TYPE-IB
    ROE, T
    SCHONFELD, N
    THOMAS, D
    GILSANZ, V
    ATKINSON, J
    ISSACS, H
    LANCET, 1984, 1 (8385): : 1077 - 1077
  • [28] FURTHER CHARACTERIZATION OF GLYCOGEN FROM TYPE-IV GLYCOGEN-STORAGE DISEASE
    MERCIER, C
    WHELAN, WJ
    EUROPEAN JOURNAL OF BIOCHEMISTRY, 1973, 40 (01): : 221 - 223
  • [29] CORNSTARCH THERAPY IN TYPE-I GLYCOGEN-STORAGE DISEASE
    CHEN, YT
    CORNBLATH, M
    SIDBURY, JB
    NEW ENGLAND JOURNAL OF MEDICINE, 1984, 310 (03): : 171 - 175
  • [30] HEPATIC ADENOMATA IN TYPE-I GLYCOGEN-STORAGE DISEASE
    RUCKEL, A
    KUBALE, R
    MARG, W
    LEBER MAGEN DARM, 1990, 20 (03) : 158 - 161