Glycogen storage disease due to glycogen debranching enzyme deficiency

Glycogen Storage Disease Type III (Glycogen Debranching Enzyme Deficiency): Correlation of Biochemical Defects with Myopathy and Cardiomyopathy

Annals of Internal Medicine ◽

10.7326/0003-4819-116-11-896 ◽

1992 ◽

Vol 116 (11) ◽

pp. 896 ◽

Cited By ~ 64

Author(s):

Rosalind A. Coleman

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Enzyme Deficiency ◽

Debranching Enzyme ◽

Type Iii ◽

Glycogen Debranching Enzyme

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A Case of Glycogen Storage Disease Type III (Glycogen Debranching Enzyme Deficiency) with Liver Cirrhosis and Hypertrophic Cardiomyopathy.

The Tohoku Journal of Experimental Medicine ◽

10.1620/tjem.176.181 ◽

1995 ◽

Vol 176 (3) ◽

pp. 181-185 ◽

Cited By ~ 4

Author(s):

AKIRA KOBAYASHI ◽

FUJIHIKO NISHINOMIYA ◽

YUHZOU FUKAMACHI ◽

MASAHIRO OHTAKA ◽

JOHTA YAMAMOTO ◽

...

Keyword(s):

Liver Cirrhosis ◽

Hypertrophic Cardiomyopathy ◽

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Enzyme Deficiency ◽

Debranching Enzyme ◽

Glycogen Debranching Enzyme

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Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

The Journal of Pediatrics ◽

10.1016/s0022-3476(05)81652-x ◽

1990 ◽

Vol 116 (1) ◽

pp. 95-100 ◽

Cited By ~ 59

Author(s):

Jia-Huan Ding ◽

T. de Barsy ◽

Barbara I. Brown ◽

Rosalind A. Coleman ◽

Yuan-Tsong Chen

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Debranching Enzyme ◽

Type Iii ◽

Glycogen Debranching Enzyme

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Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

Human Genetics ◽

10.1007/s004390051017 ◽

2000 ◽

Vol 106 (1) ◽

pp. 108-115 ◽

Cited By ~ 25

Author(s):

M. Okubo ◽

A. Horinishi ◽

M. Takeuchi ◽

Y. Suzuki ◽

N. Sakura ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Type Iiia ◽

Glycogen Debranching Enzyme

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Two new mutations in the 3′ coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient

Journal of Inherited Metabolic Disease ◽

10.1023/a:1005343625756 ◽

1998 ◽

Vol 21 (2) ◽

pp. 141-148 ◽

Cited By ~ 12

Author(s):

R. Parvari ◽

J. Shen ◽

E. Hershkovitz ◽

Y. T. Chen ◽

S. W. Moses

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Ashkenazi Jewish ◽

Coding Region ◽

Debranching Enzyme ◽

Glycogen Debranching Enzyme ◽

New Mutations

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Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

Journal of Medical Genetics ◽

10.1136/jmg.34.1.34 ◽

1997 ◽

Vol 34 (1) ◽

pp. 34-38 ◽

Cited By ~ 14

Author(s):

J Shen ◽

H M Liu ◽

Y Bao ◽

Y T Chen

Keyword(s):

Linkage Analysis ◽

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Polymorphic Markers ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Glycogen Debranching Enzyme

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Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions

Human Molecular Genetics ◽

10.1093/hmg/ddp128 ◽

2009 ◽

Vol 18 (11) ◽

pp. 2045-2052 ◽

Cited By ~ 24

Author(s):

Alan Cheng ◽

Mei Zhang ◽

Minoru Okubo ◽

Kaoru Omichi ◽

Alan R. Saltiel

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Cellular Functions ◽

Debranching Enzyme ◽

Type Iii ◽

Glycogen Debranching Enzyme

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Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

Human Genetics ◽

10.1007/s004399900194 ◽

2000 ◽

Vol 106 (1) ◽

pp. 108-115

Author(s):

M. Okubo ◽

A. Horinishi ◽

M. Takeuchi ◽

Y. Suzuki ◽

N. Sakura ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Type Iiia ◽

Glycogen Debranching Enzyme

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Role in Tumor Growth of a Glycogen Debranching Enzyme Lost in Glycogen Storage Disease

JNCI Journal of the National Cancer Institute ◽

10.1093/jnci/dju062 ◽

2014 ◽

Vol 106 (5) ◽

Cited By ~ 25

Author(s):

Sunny Guin ◽

Courtney Pollard ◽

Yuanbin Ru ◽

Carolyn Ritterson Lew ◽

Jason E. Duex ◽

...

Keyword(s):

Tumor Growth ◽

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage ◽

Debranching Enzyme ◽

Glycogen Debranching Enzyme

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Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

Journal of Clinical Investigation ◽

10.1172/jci118799 ◽

1996 ◽

Vol 98 (2) ◽

pp. 352-357 ◽

Cited By ~ 87

Author(s):

J Shen ◽

Y Bao ◽

H M Liu ◽

P Lee ◽

J V Leonard ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Differentially Expressed ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Type Iii ◽

Glycogen Debranching Enzyme

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