(Q34299998)

English

Muscle glycogenoses

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1 reference

Europe PubMed Central

Muscle glycogenoses (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

DiMauro S

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Lamperti C

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

1 August 2001

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Muscle and Nerve

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

24

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

984-999

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Phosphorus magnetic resonance spectroscopy (31P MRS) in neuromuscular disorders

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Histochemical diagnosis of muscle phosphofructokinase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

The molecular basis of skeletal muscle phosphorylase kinase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Genetics of type II glycogenosis: Assignment of the human gene for acid α-glucosidase to chromosome 17

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Lysosomal glycogen storage disease with normal acid maltase

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

McArdle disease: the mystery of reappearing phosphorylase activity in muscle culture--a fetal isoenzyme

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Fatal infantile form of muscle phosphorylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Debrancher deficiency: Neuromuscular disorder in 5 adults

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Human Muscle Phosphoglycerate Mutase Deficiency: Newly Discovered Metabolic Myopathy

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Analysis of the phosphofructokinase subunits and isoenzymes in human tissues

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

An adult case of Andersen's disease--Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Reduced levels of skeletal muscle Na+K+ -ATPase in McArdle disease.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Linkage of aerobic glycolysis to sodium-potassium transport in rat skeletal muscle. Implications for increased muscle lactate production in sepsis

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Different clinical aspects of debrancher deficiency myopathy

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Muscle Phosphofructokinase Deficiency

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Oral branched-chain amino acids do not improve exercise capacity in McArdle disease.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

McArdle disease: Phosphorylase activity in regenerating muscle fibers

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Neuromuscular involvement in glycogen storage disease type III.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Lysosomal glycogen storage disease without acid maltase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Fatal infantile form of muscle phosphofructokinase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Identification of two subtypes of infantile acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

The long-term outcome of patients with glycogen storage diseases

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Assignment of the human acid ?-glucosidase gene (?GLU) to chromosome 17 using somatic cell hybrids

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Metabolic causes of myoglobinuria

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Effect of vitamin B6 supplementation in McArdle's disease: a strategic case study

1 reference

https://api.crossref.org/works/10.1002%2FMUS.1103

21 January 2018

Identifiers

10.1002/MUS.1103

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34299998&oldid=2038960349"