(Q33829454)

29 July 2017

1 reference

title

Glycogen storage myopathies (English)

1 reference

29 July 2017

Tsujino S

1

1 reference

PubMed ID

10658171

29 July 2017

Nonaka I

series ordinal

2

1 reference

PubMed ID

10658171

29 July 2017

DiMauro S

series ordinal

3

1 reference

29 July 2017

1 February 2000

1 reference

29 July 2017

1 reference

29 July 2017

18

1 reference

29 July 2017

1

1 reference

29 July 2017

125-150

1 reference

Molecular genetic analysis of McArdle's disease in Spanish patients

29 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

McArdle's disease: Molecular genetics and metabolic consequences of the phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Histochemical diagnosis of muscle phosphofructokinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids (thymidine kinase-lactate dehydrogenase A-isocitrate dehydrogenase-C-11,

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

A mild adult myopathic variant of type IV glycogenosis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Type 3 glycogenosis. An adult with diffuse weakness and muscle wasting

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Glycogen branching enzyme deficiency in adult polyglucosan body disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Adult phosphorylase b kinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Clinical varieties of neuromuscular disease in debrancher deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Late-onset muscle phosphofructokinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Human Muscle Phosphoglycerate Mutase Deficiency: Newly Discovered Metabolic Myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Fatal infantile form of muscle phosphorylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Debrancher deficiency: Neuromuscular disorder in 5 adults

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Analysis of the phosphofructokinase subunits and isoenzymes in human tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Diagnosis of McArdle's disease by molecular genetic analysis of blood

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysaccharide. Report of a case with histochemical and electron microscopic studies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Type III glycogenosis presenting as liver disease in adults with atypical histological features

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Myophosphorylase deficiency impairs muscle oxidative metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Improved energy kinetics following high protein diet in McArdle's syndrome. A 31P magnetic resonance spectroscopy study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Hereditary deficiency of lactate dehydrogenase M-subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Lactate dehydrogenase M-subunit deficiencies: clinical features, metabolic background, and genetic heterogeneities

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Partial deficiency of phosphoglycerate mutase with diabetic polyneuropathy: the first Japanese patient

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Molecular gene mapping of human aldolase A (ALDOA) gene to chromosome 16.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Structure of the human phosphoglycerate kinase gene and the intron-mediated evolution and dispersal of the nucleotide-binding domain

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Gross cardiac involvement in glycogen storage disease type 3

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Fatal infantile muscle phosphorylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Glycogen debrancher deficiency is reproduced in muscle culture

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

McArdle disease: Phosphorylase activity in regenerating muscle fibers

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Neuromuscular involvement in glycogen storage disease type III.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Cardiac involvement in glycogen storage disease type III

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Cloning of human muscle phosphofructokinase cDNA

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

McArdle's disease: two clinical expressions in the same pedigree

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Peripheral nerve in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Skin biopsy findings in glycogenosis III: clinical, biochemical, and electrophysiological correlations

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Characterization of glycogen phosphorylase isoenzymes present in cultured skeletal muscle from patients with McArdle's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Severe cardiopathy in branching enzyme deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Reversal of debrancher deficiency myopathy by the use of high-protein nutrition.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Myopathy in McArdle's syndrome. Improvement with a high-protein diet

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

The long-term outcome of patients with glycogen storage diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Phosphoglycerate kinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Histochemical detection of phosphorylase in animal tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Metabolic causes of myoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Improvement of hemolysis in muscle phosphofructokinase deficiency by restriction of exercise

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Phosphorylase b kinase deficiency in man: a review

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

The Subgroups of Type III Glycogenosis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen→q32) using somatic cell hybrids and monoclonal anti-M antibody

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Muscle phosphofructokinase deficiency in two generations

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Mutation analysis in myophosphorylase deficiency (McArdle's disease)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

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/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Regional localization of the phosphoglycerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence to chromosome 19

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

Assignment of the human glycogen debrancher gene to chromosome 1p21.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970181-X

7 January 2021

10.1016/S0733-8619(05)70181-X

Identifiers

DOI

1 reference

29 July 2017

1 reference

PubMed ID

10658171