Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes

1988 ◽  
Vol 11 (S2) ◽  
pp. 252-254 ◽  
Author(s):  
Y. S. Shin ◽  
H. Steigüber ◽  
P. Klemm ◽  
W. Endres ◽  
O. Schwab ◽  
...  
Keyword(s):  
Branching Enzyme ◽  
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

Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis)

1993 ◽  
Vol 85 (4) ◽  
pp. 419-430 ◽  
Author(s):  
J. M. Schr�der ◽  
R. May ◽  
Y. S. Shin ◽  
M. Sigmund ◽  
S. Nase-H�ppmeier
Keyword(s):  
Enzyme Deficiency ◽  
Branching Enzyme ◽  
Type Iv ◽  
Polyglucosan Body ◽  
Type Iv Glycogenosis ◽  
Deficiency Type

Branching Enzyme in Erythrocytes. Detection of Type IV Glycogenosis Homozygotes and Heterozygotes

1988 ◽  
pp. 252-254
Author(s):  
Y. S. Shin ◽  
H. Steigüber ◽  
P. Klemm ◽  
W. Endres ◽  
O. Schwab ◽  
...  
Keyword(s):  
Branching Enzyme ◽  
Type Iv ◽  
Type Iv Glycogenosis

A new variant of type IV glycogenosis: Deficiency of branching enzyme activity without apparent progressive liver disease

Hepatology ◽  
1988 ◽  
Vol 8 (2) ◽  
pp. 302-306 ◽  
Author(s):  
Harry L. Greene ◽  
Barbara I. Brown ◽  
Daniel T. McClenathan ◽  
Rocco M. Agostini ◽  
Suzanne R. Taylor
Keyword(s):  
Enzyme Activity ◽  
Liver Disease ◽  
Branching Enzyme ◽  
Type Iv ◽  
New Variant ◽  
Type Iv Glycogenosis ◽  
Progressive Liver Disease

A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency

1995 ◽  
Vol 16 (11) ◽  
pp. 1698-1704 ◽  
Author(s):  
S. NASE ◽  
K. P. KUNZE ◽  
M. SIGMUND ◽  
J. M. SCHROEDER ◽  
Y. SHIN ◽  
...  
Keyword(s):  
Enzyme Deficiency ◽  
Branching Enzyme ◽  
Type Iv ◽  
New Variant ◽  
Type Iv Glycogenosis ◽  
Cardiac Manifestation

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.

Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

2004 ◽  
Vol 145 (5) ◽  
pp. 705-709 ◽  
Author(s):  
Andreas R. Janecke ◽  
Susanne Dertinger ◽  
Uwe-Peter Ketelsen ◽  
Lothar Bereuter ◽  
Burkhard Simma ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Branching Enzyme ◽  
Type Iv ◽  
Glycogen Branching Enzyme

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
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