Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts (Q40922530)

24 September 2017

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

1 reference

24 September 2017

Reuser AJ

1

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24 September 2017

Kroos M

2

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24 September 2017

Willemsen R

3

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24 September 2017

Swallow D

4

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24 September 2017

Tager JM

5

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24 September 2017

Galjaard H

6

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24 September 2017

language of work or name

English

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publication date

1 June 1987

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Journal of Clinical Investigation

24 September 2017

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24 September 2017

79

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24 September 2017

6

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24 September 2017

1689-1699

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Protein measurement with the Folin phenol reagent

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

Genetic heterogeneity in acid alpha-glucosidase deficiency.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

Childhood acid maltase deficiency. A clinical, biochemical, and morphologic study of three patients

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

Identification, developmental regulation, and response to heat shock of two antigenically related forms of a major nuclear envelope protein in Drosophila embryos: application of an improved method for affinity purification of antibodies using polype

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

Residual acid maltase activity in late-onset acid maltase deficiency

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

Use of immobilized antibodies in investigating acid α-glucosidase in urine in relation to Pompe's disease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424503

Muscular form of glycogenosis, type II (Pompe)

17 June 2018

1 reference

12 December 2020

Late Infantile Acid Maltase Deficiency

1 reference

12 December 2020

Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types

1 reference

12 December 2020

α-1,4-Glucosidase activity in leucocytes and lymphocytes of 2 adult patients with glycogen-storage disease type II, (Pompe's disease)

1 reference

12 December 2020

Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues

1 reference

12 December 2020

Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts

1 reference

12 December 2020

Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease)

1 reference

12 December 2020

Acid alpha-glucosidase: kinetic and immunologic properties of enzyme variants in health and disease

1 reference

12 December 2020

Isolation and characterization of a precursor form of lysosomal alpha-glucosidase from human urine

1 reference

12 December 2020

Multiple neutral maltase activities in normal and acid maltase-deficient human muscle

1 reference

12 December 2020

Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study

1 reference

12 December 2020

Glycogen storage disease of the heart. I. Report of 2 cases in siblings with chemical and pathologic studies

1 reference

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

Identifiers

DOI

10.1172/JCI113008

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24 September 2017

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24 September 2017

PubMed publication ID

3108320

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