Acid maltase deficiency and related myopathies (Q33829459)

29 July 2017

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title

Acid maltase deficiency and related myopathies (English)

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29 July 2017

Amato AA

1

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29 July 2017

language of work or name

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1 February 2000

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29 July 2017

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29 July 2017

volume

18

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29 July 2017

issue

1

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29 July 2017

page(s)

151-165

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

29 July 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Adult acid maltase deficiency

1 reference

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7 January 2021

Dietary treatment in late-onset acid maltase deficiency

1 reference

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7 January 2021

A mild adult myopathic variant of type IV glycogenosis

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Glycogen branching enzyme deficiency in adult polyglucosan body disease

1 reference

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7 January 2021

Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Polyglucosan body disease

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7 January 2021

Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Clinical varieties of neuromuscular disease in debrancher deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Myopathies due to enzyme deficiencies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Muscle computed tomography in adult-onset acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Debrancher deficiency: Neuromuscular disorder in 5 adults

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Adult-onset acid maltase deficiency: A postmortem study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies

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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

The spectrum and diagnosis of acid maltase deficiency.

1 reference

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7 January 2021

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature

1 reference

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7 January 2021

Childhood-onset spinocerebellar syndrome associated with massive polyglucosan body deposition.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Branching enzyme-deficiency glycogenosis: studies in therapy

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7 January 2021

Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. The Liver Transplant Group

1 reference

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

1 reference

7 January 2021

Adult myopathy from glycogen storage disease due to acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

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/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

The adult form of acid maltase (alpha-1,4-glucosidase) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype

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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

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%2970182-1

7 January 2021

POMPE'S DISEASE (DIFFUSE GLYCOGENOSIS) WITH NEURONAL STORAGE

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Gross cardiac involvement in glycogen storage disease type 3

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Neuromuscular involvement in glycogen storage disease type III.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Myopathy associated with Type III glycogenosis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

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%2970182-1

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%2970182-1

7 January 2021

Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb

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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Biochemical investigation of an unusual case of glycogenosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

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/10.1016%2FS0733-8619%2805%2970182-1

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%2970182-1

7 January 2021

Genetic defects in patients with glycogenosis type II (acid maltase deficiency)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Glycogenosis type II (acid maltase deficiency)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Acid maltase deficiency in adults presenting as respiratory failure

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Failure of liver transplantation to diminish cardiac deposits of amylopectin and leukocyte inclusions in type IV glycogen storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

The muscular variant of Pompe's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Liver transplantation for type IV glycogen storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Severe cardiopathy in branching enzyme deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

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%2970182-1

7 January 2021

Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

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%2970182-1

7 January 2021

Muscular form of glycogenosis, type II (Pompe)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Late Infantile Acid Maltase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Glycogen storage disease type III associated with ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

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%2970182-1

7 January 2021

Genotype-phenotype correlation in adult-onset acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

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%2970182-1

7 January 2021

Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

Glycogenosis IV: A new cause of infantile hypotonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970182-1

7 January 2021

10.1016/S0733-8619(05)70182-1

Identifiers

DOI

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Fatcat

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30 July 2022

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Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/ip62vj3p7zfmdfakqsyk7h3hhq

30 July 2022

mapped directly with Wikidata item

https://api.fatcat.wiki/v0/release/ip62vj3p7zfmdfakqsyk7h3hhq

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30 July 2022