Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 227,741,297 papers from all fields of science
Search
Sign In
Create Free Account
Glycogen storage disease type II
Known as:
GAA Deficiencies
, Deficiency of Alpha-Glucosidase
, GAA Deficiency
Expand
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
26 relations
Alpha-glucosidase
Autosomal recessive inheritance
Cerebral arterial aneurysm
Conditions tested for in this newborn screening study:ID:Pt:Bld.dot:Nom
Expand
Narrower (1)
Cardiac form of generalized glycogenosis
Broader (1)
Glycogen Storage Disease
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
Molecular diagnosis of German patients with late-onset glycogen storage disease type II
P. Joshi
,
Dieter Gläser
,
+5 authors
M. Deschauer
Journal of Inherited Metabolic Disease
2008
Corpus ID: 6717246
SummaryIn patients with late-onset glycogen storage disease type II, one mutation, c.−32−13T>G, in the α-glucosidase (GAA) gene…
Expand
Highly Cited
2001
Highly Cited
2001
Terminal Nucleotidyl Transferase Activity of RecombinantFlaviviridae RNA-Dependent RNA Polymerases: Implication for Viral RNA Synthesis
C. Ranjith-Kumar
,
J. Gajewski
,
L. Gutshall
,
D. Maley
,
R. Sarisky
,
C. Kao
Journal of Virology
2001
Corpus ID: 39565468
ABSTRACT Recombinant hepatitis C virus (HCV) RNA-dependent RNA polymerase (RdRp) was reported to possess terminal transferase…
Expand
Highly Cited
2001
Highly Cited
2001
Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease.
K. Umapathysivam
,
J. Hopwood
,
P. Meikle
Clinical Chemistry
2001
Corpus ID: 24677031
BACKGROUND Pompe disease is an autosomal recessive disorder of glycogen metabolism that is characterized by a deficiency of the…
Expand
Highly Cited
1999
Highly Cited
1999
Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency.
C. Lutzko
,
S. Kruth
,
+9 authors
I. Dubé
Blood
1999
Corpus ID: 23723928
Canine alpha-L-iduronidase (alpha-ID) deficiency, a model of the human storage disorder mucopolysaccharidosis type I (MPS I), is…
Expand
Highly Cited
1999
Highly Cited
1999
Further Analysis of Intraspecific Sequence Variation of Chloroplast DNA in Primula cuneifolia Ledeb. (Primulaceae): Implications for Biogeography of the Japanese Alpine Flora
N. Fujii
,
K. Ueda
,
Yasuyuki Watano
,
Tatemi Shimizu
Journal of plant research
1999
Corpus ID: 43457319
Primula cuneifolia Ledeb. (Primulaceae), we analyzed intraspecific variation of the nucleotide sequences of non-coding regions of…
Expand
Highly Cited
1997
Highly Cited
1997
Intraspecific sequence variation of chloroplast DNA inPedicularis chamissonis Steven (Scrophulariaceae) and geographic structuring of the Japanese “Alpine” plants
N. Fujii
,
K. Ueda
,
Yasuyuki Watano
,
Tatemi Shimizu
Journal of plant research
1997
Corpus ID: 44519695
In order to clarify evolutionary patterns and processes of intraspecific diversification ofPedicularis chamissonis Steven, we…
Expand
Highly Cited
1989
Highly Cited
1989
Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification.
Hiroshi Okayama
,
David T. Curiel
,
Mark L. Brantly
,
Mark D. Holmes
,
R. G. Crystal
Journal of Laboratory and Clinical Medicine
1989
Corpus ID: 33961128
A simple, rapid, nonradioactive method has been developed to facilitate the direct detection of point mutations that cause…
Expand
Highly Cited
1984
Highly Cited
1984
Codon context effects in missense suppression.
E. J. Murgola
,
F. T. Pagel
,
K. Hijazi
Journal of Molecular Biology
1984
Corpus ID: 45022016
Highly Cited
1984
Highly Cited
1984
Isolation of a homogeneous glucosidase II from pig kidney microsomes.
D. Brada
,
Ulrich C. Dubach
European Journal of Biochemistry
1984
Corpus ID: 23555087
The processing of the oligosaccharide precursor chain, (GlcNAc)2(Man)9(Glc)3, of N-glycosylated glycoproteins starts with the…
Expand
1984
1984
Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells.
G. Hug
,
S. Soukup
,
M. Ryan
,
G. Chuck
New England Journal of Medicine
1984
Corpus ID: 2246498
Glycogen-storage disease Type IIa is a fatal, genetically determined disease of infancy or early childhood that is characterized…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE