FATAL INFANTILE HYPERTROPHIC CARDIOMYOPATHY SECONDARY TO DEFICIENCY OF HEART SPECIFIC PHOSPHORYLASE-B KINASE

被引：16

作者：

ELLEDER, M

SHIN, YS

ZUNTOVA, A

VOJTOVIC, P

CHALUPECKY, V

机构：

[1] UNIV MUNICH, CHILDRENS HOSP, W-8000 MUNICH 2, GERMANY

[2] UNIV HOSP MOTOL, DEPT PATHOL, PRAGUE, CZECHOSLOVAKIA

[3] UNIV HOSP MOTOL, CTR PAEDIAT CARDIOL & SURG, PRAGUE, CZECHOSLOVAKIA

来源：

VIRCHOWS ARCHIV A-PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY | 1993年 / 423卷 / 04期

关键词：

PHOSPHORYLASE-B KINASE DEFICIENCY; GLYCOGEN STORAGE DISEASE; HYPERTROPHIC CARDIOMYOPATHY;

D O I：

10.1007/BF01606895

中图分类号：

R602 [外科病理学、解剖学]; R32 [人体形态学];

学科分类号：

100101 ;

摘要：

We describe here a male infant with a rare form of glycogenosis caused by deficiency of heart specific phosphorylase b kinase. The disease phenotype was characterized by severe glycogenosis restricted to the heart muscle with secondary rapidly progressive hypertrophic cardiomyopathy causing death at the age of 47 days.

引用

页码：303 / 307

页数：5

共 23 条

[1] ADULT MUSCLE PHOSPHORYLASE-B KINASE-DEFICIENCY
ABARBANEL, JM
BASHAN, N
POTASHNIK, R
OSIMANI, A
MOSES, SW
HERISHANU, Y
[J]. NEUROLOGY, 1986, 36 (04) : 560 - 562
[2] GLYCOGENOSIS DUE TO LIVER AND MUSCLE PHOSPHORYLASE-KINASE DEFICIENCY
BASHAN, N
IANCU, TC
LERNER, A
FRASER, D
POTASHNIK, R
MOSES, SW
[J]. PEDIATRIC RESEARCH, 1981, 15 (04) : 299 - 303
[3] BENDER PK, 1987, J BIOL CHEM, V262, P8799
[4] PHOSPHORYLASE-B KINASE-DEFICIENCY IN GLYCOGENOSIS TYPE-VIII - DIFFERENTIATION OF DIFFERENT PHENOTYPES AND HETEROZYGOTES BY ERYTHROCYTE ENZYME ASSAY
BESLEY, GTN
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (02) : 115 - 118
[5] USE OF PLATELETS, MONONUCLEAR AND POLYMORPHONUCLEAR CELLS IN THE DIAGNOSIS OF GLYCOGEN-STORAGE DISEASE TYPE-VI
DAHAN, N
BAUSSAN, C
MOATTI, N
LEMONNIER, A
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 (03) : 253 - 260
[6] 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
[J]. HUMAN PATHOLOGY, 1985, 16 (02) : 193 - 197
[7] LIVER FINDINGS IN NIEMANN PICK DISEASE TYPE-C
ELLEDER, M
SMID, F
HYNIOVA, H
CIHULA, J
ZEMAN, J
MACEK, M
[J]. HISTOCHEMICAL JOURNAL, 1984, 16 (11): : 1147 - 1170
[8] Haftek M., 1976, MED J AUSTRALIA, V7th ed.
[9] DEFICIENT ACTIVITY OF DEPHOSPHOPHOSPHORYLASE KINASE AND ACCUMULATION OF GLYCOGEN IN LIVER
HUG, G
SCHUBERT, WK
CHUCK, G
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1969, 48 (04) : 704 - +
[10] PHOSPHORYLASE KINASE IN LEUCOCYTES OF NORMAL SUBJECTS AND OF PATIENTS WITH GLYCOGEN-STORAGE DISEASE
HUIJING, F
[J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1967, 148 (02) : 601 - &

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