(Q33712716)

28 July 2017

1 reference

title

Different clinical aspects of debrancher deficiency myopathy (English)

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28 July 2017

Kiechl S

1

1 reference

28 July 2017

Kohlendorfer U

2

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28 July 2017

Thaler C

3

1 reference

28 July 2017

Skladal D

4

1 reference

28 July 2017

Jaksch M

5

1 reference

28 July 2017

Obermaier-Kusser B

6

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28 July 2017

Willeit J

7

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28 July 2017

language of work or name

English

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publication date

1 September 1999

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

28 July 2017

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28 July 2017

67

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28 July 2017

3

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28 July 2017

364-368

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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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Sarcoid myopathy presenting with diaphragm weakness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Glycogen storage disease in adults

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

The Determination of Amylo-1,6-Glucosidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Myopathy associated with Type III glycogenosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Biochemical investigation of an unusual case of glycogenosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Neuromuscular involvement in glycogen storage disease type III.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

The long-term outcome of patients with glycogen storage diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Type III glycogen storage disease: An adult case with mild disease but complete absence of debrancher protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Acid maltase deficiency in adults presenting as respiratory failure

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Debrancher deficiency: Neuromuscular disorder in 5 adults

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Type III glycogenosis with multicore structures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

Glycogenosis type III myocardiopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736538

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

21 June 2018

1 reference

12 December 2020

Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy

1 reference

12 December 2020

Inclusion body myositis as a cause of respiratory failure

1 reference

12 December 2020

Motor neuron disease presenting with respiratory failure

1 reference

12 December 2020

Respiratory insufficiency in neuronopathic and neuropathic disorders

1 reference

12 December 2020

Amylo-1, 6-glucosidase in muscle tissue in generalized glycogen storage disease

1 reference

12 December 2020

Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers

1 reference

12 December 2020

Glycogenosis type III with peripheral nerve disorder and muscular hypertrophy in an adult

1 reference

12 December 2020

[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]

1 reference

12 December 2020

Clinical varieties of neuromuscular disease in debrancher deficiency

1 reference

12 December 2020

Amylo-1,6-Glucosidase Activity and Glycogen Content of the Erythrocytes of Normal Subjects, Patients with Glycogen Storage Disease and Heterozygotes

1 reference

12 December 2020

Cardiomyopathy of glycogen storage disease type III

1 reference

12 December 2020

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

12 December 2020

Amylo-1,60glucosidase deficiency (glycogenosis type III) in the Faroe Islands

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Glycogen storage disease; report of a case with abnormal glycogen structure in liver and skeletal muscle

1 reference

12 December 2020

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

1 reference

12 December 2020

The Subgroups of Type III Glycogenosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.67.3.364

1 reference

28 July 2017

1 reference

28 July 2017

1 reference