(Q55847306)

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article published in 2006

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scholarly article

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author name string

M Jeub

1

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K Kappes-Horn

2

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C Kornblum

3

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D Fischer

4

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publication date

December 2006

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77

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12

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1487-91

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https://scigraph.springernature.com/pub.10.1007/s00115-006-2184-x

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Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

1 reference

https://api.crossref.org/works/10.1007%2FS00115-006-2184-X

21 January 2018

Polyglucosan body disease simulating amyotrophic lateral sclerosis.

1 reference

https://api.crossref.org/works/10.1007%2FS00115-006-2184-X

21 January 2018

A mild adult myopathic variant of type IV glycogenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

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Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

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inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

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Glycogenosis IV: A new cause of infantile hypotonia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

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Glycogen branching enzyme deficiency in adult polyglucosan body disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nervous system involvement in type IV glycogenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

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Clinical varieties of neuromuscular disease in debrancher deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

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Mutational analysis of the AGL gene: five novel mutations in GSD III patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of glycogen storage disease type III.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The long-term outcome of patients with glycogen storage diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Debrancher deficiency: Neuromuscular disorder in 5 adults

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe cardiopathy in branching enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polyglucosan body disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17106730

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00115-006-2184-X

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