type iv glycogenosis
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Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene

2008 ◽  
Vol 116 (5) ◽  
pp. 491-506 ◽  
Author(s):  
Kay W. Nolte ◽  
Andreas R. Janecke ◽  
Matthias Vorgerd ◽  
Joachim Weis ◽  
J. Michael Schröder
Keyword(s):  
Spinal Cord ◽  
Novel Mutations ◽  
Polyglucosan Bodies ◽  
Type Iv ◽  
Muscle Nerve ◽  
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

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

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

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

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

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

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

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
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