Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins (Q35248457)

7 August 2017

Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins (English)

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nucleic acid sequence analysis

7 August 2017

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1 reference

Van der Ploeg AT

1

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7 August 2017

Hoefsloot LH

2

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7 August 2017

Hoogeveen-Westerveld M

3

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7 August 2017

Petersen EM

4

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7 August 2017

Reuser AJ

5

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7 August 2017

language of work or name

English

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publication date

1 June 1989

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American Journal of Human Genetics

7 August 2017

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7 August 2017

44

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7 August 2017

6

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7 August 2017

787-793

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Protein measurement with the Folin phenol reagent

7 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

Purification of mouse immunoglobulin heavy-chain messenger RNAs from total myeloma tumor RNA

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

The use of leucocytes as an aid in the diagnosis of a variant of glycogen storage disease type II (Pompe's disease).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

The use of NaOH as transfer solution of DNA onto nylon membrane decreases the hybridization efficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

Detection of specific sequences among DNA fragments separated by gel electrophoresis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

Biochemical, immunological, and cell genetic studies in glycogenosis type II

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

An improved thin-layer chromatographic method for urinary oligosaccharide screening

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715658

Receptor-mediated uptake of acid alpha-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle

27 July 2018

1 reference

12 December 2020

Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues

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12 December 2020

Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report

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12 December 2020

Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization

1 reference

12 December 2020

Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease)

1 reference

12 December 2020

Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II

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12 December 2020

Biosynthesis and intracellular transport of alpha-glucosidase and cathepsin D in normal and mutant human fibroblasts

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12 December 2020

Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid alpha-glucosidase

1 reference

12 December 2020

Cell-free translation of human lysosomal alpha-glucosidase: evidence for reduced precursor synthesis in an adult patient with glycogenosis type II

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12 December 2020

Identifiers

PMCID

1715658

1 reference

7 August 2017

1 reference