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Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with Type IV glycogen storage disease
Biochemical and Biophysical Research Communications
◽
10.1016/0006-291x(83)90354-6
◽
1983
◽
Vol 111
(2)
◽
pp. 636-643
◽
Cited By ~ 17
Author(s):
David H. Brown
◽
Barbara I. Brown
Keyword(s):
Enzyme Activity
◽
Human Skin
◽
Glycogen Storage Disease
◽
Storage Disease
◽
Glycogen Storage
◽
Skin Fibroblasts
◽
Human Skin Fibroblasts
◽
Branching Enzyme
◽
Type Iv
◽
Glycogen Branching Enzyme
Download Full-text
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References
Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1
The Journal of Pediatrics
◽
10.1016/j.jpeds.2004.07.024
◽
2004
◽
Vol 145
(5)
◽
pp. 705-709
◽
Cited By ~ 27
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
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Type IV glycogen storage disease: Branching enzyme deficiency in skin fibroblasts and possible heterozygote detection
The Journal of Pediatrics
◽
10.1016/s0022-3476(71)80466-3
◽
1971
◽
Vol 78
(4)
◽
pp. 638-642
◽
Cited By ~ 35
Author(s):
R. Rodney Howell
◽
Michael M. Kaback
◽
Barbara I. Brown
Keyword(s):
Glycogen Storage Disease
◽
Storage Disease
◽
Glycogen Storage
◽
Skin Fibroblasts
◽
Enzyme Deficiency
◽
Branching Enzyme
◽
Type Iv
◽
Heterozygote Detection
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Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Journal of Clinical Investigation
◽
10.1172/jci118517
◽
1996
◽
Vol 97
(4)
◽
pp. 941-948
◽
Cited By ~ 109
Author(s):
Y Bao
◽
P Kishnani
◽
J Y Wu
◽
Y T Chen
Keyword(s):
Glycogen Storage Disease
◽
Storage Disease
◽
Glycogen Storage Disease Type
◽
Glycogen Storage
◽
Disease Type
◽
Branching Enzyme
◽
Enzyme Gene
◽
Type Iv
◽
Glycogen Branching Enzyme
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The apparent activity in vivo of the lysosomal pathway of glycogen catabolism in cultured human skin fibroblasts from patients with type III glycogen storage disease.
Journal of Biological Chemistry
◽
10.1016/s0021-9258(17)34648-3
◽
1978
◽
Vol 253
(14)
◽
pp. 5005-5011
Author(s):
D.H. Brown
◽
L.M. Waindle
◽
B.I. Brown
Keyword(s):
Human Skin
◽
Glycogen Storage Disease
◽
Storage Disease
◽
Glycogen Storage
◽
Skin Fibroblasts
◽
Human Skin Fibroblasts
◽
Type Iii
◽
Glycogen Catabolism
Download Full-text
Glycogen branching enzyme. Preparation and properties of α-1,4-glucan-α-1,4-glucan 6-glycosyltransferase and its action on the characteristic polysaccharide of the liver of children with type IV glycogen storage disease
Biochemistry
◽
10.1021/bi00799a016
◽
1971
◽
Vol 10
(23)
◽
pp. 4253-4262
◽
Cited By ~ 32
Author(s):
Walter B. Gibson
◽
Barbara Illingworth Brown
◽
David H. Brown
Keyword(s):
Glycogen Storage Disease
◽
Enzyme Preparation
◽
Storage Disease
◽
Glycogen Storage
◽
Branching Enzyme
◽
Type Iv
◽
Glycogen Branching Enzyme
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Glycogen Storage Disease Type IV: Inherited Deficiency of Branching Enzyme Activity in Cats
Pediatric Research
◽
10.1203/00006450-199212000-00020
◽
1992
◽
Vol 32
(6)
◽
pp. 719-725
◽
Cited By ~ 52
Author(s):
John C Fyfe
◽
Urs Giger
◽
Thomas J Van Winkle
◽
Mark E Haskins
◽
Sheldon A Steinberg
◽
...
Keyword(s):
Enzyme Activity
◽
Glycogen Storage Disease
◽
Storage Disease
◽
Glycogen Storage Disease Type
◽
Glycogen Storage
◽
Disease Type
◽
Branching Enzyme
◽
Type Iv
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A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
Pediatric Gastroenterology Hepatology & Nutrition
◽
10.5223/pghn.2018.21.4.365
◽
2018
◽
Vol 21
(4)
◽
pp. 365
◽
Cited By ~ 2
Author(s):
So Yoon Choi
◽
Ben Kang
◽
Jae Young Choe
◽
Yoon Lee
◽
Hyo Jeong Jang
◽
...
Keyword(s):
Glycogen Storage Disease
◽
Storage Disease
◽
Glycogen Storage
◽
Branching Enzyme
◽
Enzyme Gene
◽
Homozygous Mutations
◽
Glycogen Branching Enzyme
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Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV
Human Molecular Genetics
◽
10.1093/hmg/ddq492
◽
2010
◽
Vol 20
(3)
◽
pp. 455-465
◽
Cited By ~ 27
Author(s):
Yi-Ching Lee
◽
Chia-Jung Chang
◽
Deeksha Bali
◽
Yuan-Tsong Chen
◽
Yu-Ting Yan
Keyword(s):
Glycogen Storage Disease
◽
Storage Disease
◽
Cardiac Development
◽
Glycogen Storage
◽
Enzyme Deficiency
◽
Branching Enzyme
◽
Glycogen Branching Enzyme
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Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV
Mammalian Genome
◽
10.1007/s00335-004-2369-1
◽
2004
◽
Vol 15
(7)
◽
Cited By ~ 45
Author(s):
TaraL. Ward
◽
StephanieJ. Valberg
◽
DavidL. Adelson
◽
ColetteA. Abbey
◽
MatthewM. Binns
◽
...
Keyword(s):
Glycogen Storage Disease
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Storage Disease
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Glycogen Storage
◽
Branching Enzyme
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Glycogen Branching Enzyme
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Glycogen storage disease due to glycogen branching enzyme deficiency
10.32388/vhl78d
◽
2020
◽
Author(s):
Keyword(s):
Glycogen Storage Disease
◽
Storage Disease
◽
Glycogen Storage
◽
Enzyme Deficiency
◽
Branching Enzyme
◽
Glycogen Branching Enzyme
Download Full-text
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