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Muscle glycogenoses: an overview.
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
2949320
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915567%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
review article
1 reference
stated in
Europe PubMed Central
title
Muscle glycogenoses: an overview
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
2949320
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915567%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
author name string
S Di Mauro
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
2949320
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915567%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
publication date
1 July 2007
1 reference
stated in
Europe PubMed Central
PMC publication ID
2949320
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915567%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
published in
Acta Myologica
1 reference
stated in
Europe PubMed Central
PMC publication ID
2949320
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915567%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
volume
26
1 reference
stated in
Europe PubMed Central
PMC publication ID
2949320
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915567%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
issue
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
2949320
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915567%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
page(s)
35-41
1 reference
stated in
Europe PubMed Central
PMC publication ID
2949320
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915567%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
cites work
Myopathy due to a defect in muscle glycogen breakdown
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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5 July 2018
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency
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PubMed Central
reference URL
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5 July 2018
The effect of oral sucrose on exercise tolerance in patients with McArdle's disease
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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5 July 2018
Molecular characterization of glycogen storage disease type III.
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PubMed Central
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5 July 2018
Glycogen and its Metabolism
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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5 July 2018
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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5 July 2018
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene
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PubMed Central
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5 July 2018
Different clinical aspects of debrancher deficiency myopathy
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PubMed Central
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5 July 2018
Reduced levels of skeletal muscle Na+K+ -ATPase in McArdle disease.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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5 July 2018
Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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5 July 2018
Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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5 July 2018
Biosynthesis of bacterial glycogen. Purification and properties of the Escherichia coli B α-1,4-glucan:α-1,4-glucan 6-glycosyltransferase
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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5 July 2018
Debrancher deficiency: Neuromuscular disorder in 5 adults
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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5 July 2018
Echo of silence: silent mutations, RNA splicing, and neuromuscular diseases.
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28 October 2018
Phenotype modulators in myophosphorylase deficiency
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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28 October 2018
Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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28 October 2018
Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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28 October 2018
Muscle phosphoglycerate rnutase deficiency
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
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28 October 2018
Nervous system in Pompe's disease. Ultrastructure and biochemistry
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949320
retrieved
28 October 2018
Surprises of genetic engineering: a possible model of polyglucosan body disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A diagnostic cycle test for McArdle's disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Contracture in McArdle's disease. Stability of adenosine triphosphate during contracture in phosphorylase-deficient human muscle
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Peripheral nerve in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Muscle energy metabolism in McArdle's syndrome by in vivo phosphorus magnetic resonance spectroscopy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17915567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
2949320
1 reference
stated in
Europe PubMed Central
PMC publication ID
2949320
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915567%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
PubMed publication ID
17915567
1 reference
stated in
Europe PubMed Central
PMC publication ID
2949320
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17915567%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
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