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Glycogen storage disease type II

Known as: GAA Deficiencies, Deficiency of Alpha-Glucosidase, GAA Deficiency 
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate… 
National Institutes of Health

Related topics

Related topics

26 relations
Alpha-glucosidaseAutosomal recessive inheritanceCerebral arterial aneurysmConditions tested for in this newborn screening study:ID:Pt:Bld.dot:Nom

Narrower (1)

Cardiac form of generalized glycogenosis

Broader (1)

Glycogen Storage Disease

Papers overview

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2014
2014
A Degradation Model of Double Gate and Gate-All-Around MOSFETs With Interface Trapped Charges Including Effects of Channel Mobile Charge Carriers
The reliability of multigate metal-oxide-semiconductor (MOS) devices is an important issue for novel nanoscale complementary MOS… 
2005
2005
Multiple sampling in single-cell enzyme assays using CE-laser-induced fluorescence to monitor reaction progress.
A novel method for assaying enzymes from a single cell or small cell populations is described. The key advantage of this method… 
Highly Cited
1995
Highly Cited
1995
Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.
et al,5 respectively. To identify the IVS 1 (-13T-*G) mutation, two PCR primer sets were designed, based on the amplification… 
1987
1987
Immunocytochemical localization of lysosomal acid phosphatase in normal and "I-cell" fibroblasts.
This study represents the first example of immunological localization of lysosomal acid phosphatase. The intracellular… 
Review
1985
Review
1985
Glycogen storage disease type II in the Lapland dog.
A newly recognized inherited metabolic disease in the Lapland dog is described. The metabolic defect is a deficiency of acid… 
1985
1985
Glucosidase II, a glycoprotein of the endoplasmic reticulum membrane. Proteolytic cleavage into enzymatically active fragments.
Glucosidase II removes the inner two alpha-linked glucose residues from freshly transferred Asn-linked oligosaccharide chains in… 
1985
1985
The effect of gossypol acetic acid on female reproduction.
The effects of gossypol acetic acid (GAA) on various aspects of female rat reproduction were evaluated. Forty sexually mature… 
1979
1979
Turnover studies of human intestinal brush border membrane glycoproteins in organ culture.
Turnover in organ culture of human small intestinal membrane glycoproteins was measured by the pulse-chase technique, using 14C… 
1975
1975
Blood glucose and tissue glycogen levels in turkey poults with spontaneous round heart disease and furazolidone-induced cardiomyopathy.
Furazolidone (FZ) at 700 ppm was added to feed mixtures fed turkey poults two weeks posthatching to induce acute experimental… 
1960
1960
Endocardial fibroelastosis associated with generalized glycogenosis. Occurrence in siblings.