(Q34038884)

English

Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1 reference

Europe PubMed Central

Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

glycogen storage disease

1 reference

based on heuristic

inferred from title

author name string

Ausems MG

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

ten Berg K

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Beemer FA

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Wokke JH

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

publication date

1 October 2000

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Neuromuscular Disorders

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

467-471

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Glycogenosis type II (acid maltase deficiency)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Respiratory failure as initial symptom of acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype-phenotype correlation in adult-onset acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

A diagnostic protocol for adult-onset glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Acid maltase deficiency in adults. Diagnosis and management in five cases.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Late-onset acid maltase deficiency associated with intracranial aneurysm

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult onset acid maltase deficiency associated with epilepsy and dementia: a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Intrafamilial variability in lysosomal storage diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900123-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(00)00123-1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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