Neonatal hypotonia and cardiomyopathy secondary to type?IV glycogenosis

1994 ◽  
Vol 87 (5) ◽  
pp. 531-536 ◽  
Author(s):  
Thomas T. Tang ◽  
Annette D. Segura ◽  
Yuan-Tsong Chen ◽  
Lucia M. Ricci ◽  
Ralph A. Franciosi ◽  
...  
Keyword(s):  
Type Iv ◽  
Type Iv Glycogenosis

Fine Structure of Type IV Glycogenosis

1981 ◽  
Vol 39 ◽  
pp. 464-465
Author(s):  
P.K. Simons
Keyword(s):  
Needle Biopsy ◽  
Tissue Concentration ◽  
Inborn Errors ◽  
Rare Type ◽  
Type Iv ◽  
Iron Copper ◽  
Proper Diagnosis ◽  
Type Iv Glycogenosis ◽  
Loss Of Appetite ◽  
Enzymatic Defect

Glycogenosis is defined as any condition in which the tissue concentration of glycogen is increased. There are currently ten recognized variants of glycogenosis that are heritable inborn errors of metabolism. The specific enzymatic defect in each of the variants is known or at least suspected. In all cases, the enzymatic defect prevents the proper metabolism or formation of the glycogen molecule. The clinical and histologic differences between the types of glycogenosis is important to a proper diagnosis after the presence of such a condition is realized. This study was initiated to examine the ultrastructure of the rare Type IV Glycogenosis (Amylopectinosis) of which there is very little morphologic characterization in the literature.Liver tissue was obtained by needle biopsy from a 12-month-old Oriental female who was originally admitted to the hospital after observation of poor development, loss of appetite, and hepatomegaly. The majority of the tissue was fixed for light microscopy in neutral buffered formalin and processed using routine and special staining procedures (reticulin, trichrome, iron, copper, PAS, PAS-diastase and PAS-pectinase.

An adult case of andersen's disease — Type IV glycogenosis

1983 ◽  
Vol 60 (3) ◽  
pp. 337-351 ◽  
Author(s):  
I.T. Ferguson ◽  
M. Mahon ◽  
W.J.K. Cumming
Keyword(s):  
Disease Type ◽  
Adult Case ◽  
Type Iv ◽  
Type Iv Glycogenosis

COMPARATIVE STUDY OF THE INTRACYTOPLASMIC INCLUSIONS IN LAFORA DISEASE AND TYPE IV GLYCOGENOSIS BY ELECTRON MICROSCOPY

1987 ◽  
Vol 37 (10) ◽  
pp. 1591-1601
Author(s):  
Tokuhiro Ishihara ◽  
Tadaaki Yokota ◽  
Yoshimi Yamashita ◽  
Mutsuo Takahashi ◽  
Hiroo Kawano ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Comparative Study ◽  
Lafora Disease ◽  
Type Iv ◽  
Intracytoplasmic Inclusions ◽  
Type Iv Glycogenosis

A mild juvenile variant of type IV glycogenosis

1992 ◽  
Vol 14 (1) ◽  
pp. 36-43 ◽  
Author(s):  
Erich Reusche ◽  
Fuat Aksu ◽  
Hans H Goebel ◽  
Yoon S Shin ◽  
Tadaaki Yokota ◽  
...  
Keyword(s):  
Type Iv ◽  
Type Iv Glycogenosis

Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis

1999 ◽  
Vol 86 (2) ◽  
pp. 187-193 ◽  
Author(s):  
Phillip M. Cox ◽  
Louise A. Brueton ◽  
Karl W. Murphy ◽  
Viki C. Worthington ◽  
Predrag Bjelogrlic ◽  
...  
Keyword(s):  
Early Onset ◽  
Muscle Degeneration ◽  
Fetal Hydrops ◽  
Type Iv ◽  
Novel Variant ◽  
Type Iv Glycogenosis

A mild adult myopathic variant of type iv glycogenosis

1996 ◽  
Vol 6 (2) ◽  
pp. 95-99 ◽  
Author(s):  
A. Bornemann ◽  
R. Besser ◽  
Y.S. Shin ◽  
H.H. Goebel
Keyword(s):  
Type Iv ◽  
Type Iv Glycogenosis

scholarly journals BRANCHING ENZYME IN ERYTHROCYTES: DETECTION OF TYPE IV GLYCOGENOSIS HETEROZYGOTES

1987 ◽  
Vol 22 (2) ◽  
pp. 235-235
Author(s):  
Y S Shin ◽  
P Klemm ◽  
H Steigüber ◽  
O Schwab ◽  
G Wolff
Keyword(s):  
Branching Enzyme ◽  
Type Iv ◽  
Type Iv Glycogenosis

scholarly journals Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.

1966 ◽  
Vol 56 (2) ◽  
pp. 725-729 ◽  
Author(s):  
B. I. Brown ◽  
D. H. Brown
Keyword(s):  
Glycosyl Transferase ◽  
Type Iv ◽  
Type Iv Glycogenosis

IMMUNOLOGICAL HOMOGENEITY OF LAFORA BODY, CORPORA AMYLACEA, BASOPHILIC DEGENERATION IN HEART, and INTRACYTOPLASMIC INCLUSIONS OF LIVER and HEART IN TYPE IV GLYCOGENOSIS

1987 ◽  
Vol 37 (7) ◽  
pp. 941-946
Author(s):  
Tadaaki Yokota ◽  
Tokuhiro Ishihara ◽  
Hiroo Kawano ◽  
Yoshimi Yamashita ◽  
Mutsuo Takahashi ◽  
...  
Keyword(s):  
Corpora Amylacea ◽  
Type Iv ◽  
Intracytoplasmic Inclusions ◽  
Lafora Body ◽  
Type Iv Glycogenosis

Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis

1992 ◽  
Vol 151 (3) ◽  
pp. 200-203 ◽  
Author(s):  
E. M. Sokal ◽  
F. Van Hoof ◽  
D. Alberti ◽  
J. de Ville de Goyet ◽  
T. de Barsy ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Orthotopic Liver Transplantation ◽  
Cardiac Failure ◽  
Type Iv ◽  
Type Iv Glycogenosis
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